一種痣樣基底細胞癌症候群致病基因及其編碼蛋白的製作方法

2023-08-06 22:32:16

專利名稱：一種痣樣基底細胞癌症候群致病基因及其編碼蛋白的製作方法
技術領域：
本發明涉及一種痣樣基底細胞癌症候群(NBCCS)致病基因和該基因編碼蛋白質分子的序列。本發明還涉及痣樣基底細胞癌症候群致病基因檢測方法和檢測試劑盒。
背景技術：
痣樣基底細胞癌症候群(NBCCS)又稱頜骨囊腫-基底細胞癌-肋骨分叉症候群或Gorlin症候群，主要臨床特點是多發性基底細胞癌、多發性牙源性角化囊腫、骨骼畸形和成神經管細胞瘤等。NBCCS的發病率大概為1/57000，臨床上多以頜骨角化囊腫和皮膚基底細胞癌就診於口腔頜面外科或皮膚科。NBCCS多數有家族史，有明顯的遺傳傾向，從遺傳學上分析遺傳性NBCCS是一種常染色體顯性遺傳病。
因此，對NBCCS基因和該基因編碼蛋白質分子的序列進行系統的研究，將對遺傳疾病的診斷治療具有十分重要的和深遠的意義。

發明內容
本發明克隆了NBCCS致病基因即定位於1p32.3～1p34.1區段的PTCH2基因，確定了該基因的突變位點，並進行了初步的結構和功能的研究。
進一步，本發明揭示了NBCCS發病的分子遺傳學基礎，為基因診斷、藥物設計和臨床治療提供了基因學的依據。
還進一步，本發明提供了一種檢測、分析DNA樣品中是否具有NBCCS致病基因和進行初步的結構及其功能域研究的方法，為進一步的研究奠定了基礎。
因此，本發明的一個目的是提供痣樣基底細胞癌症候群(NBCCS)致病基因，該基因的核苷酸序列如SEQ ID NO1所示，或SEQ ID NO1的同源序列，或SEQ ID NO1的變構體。
SEQ ID NO1的變構體可以如SEQ ID NO5，SEQ ID NO9，或SEQ ID NO13所示。
本發明還提供了痣樣基底細胞癌症候群(NBCCS)致病基因編碼的蛋白質，其胺基酸序列如SEQ ID NO2，SEQ ID NO6，SEQ ID NO10，或SEQ ID NO14所示。
本發明的另一個目的是提供突變的痣樣基底細胞癌症候群(NBCCS)致病基因，該基因的核苷酸序列如SEQ ID NO3所示，或SEQ ID NO3的同源序列，或SEQ ID NO3的變構體。其中突變發生在編碼區第2156位鹼基，為G→A突變，編碼的719位胺基酸由精氨酸突變為穀氨醯胺。
SEQ ID NO3的變構體可以如SEQ ID NO7，SEQ ID NO11，或SEQ ID NO15所示。
突變發生在15號外顯子，其核苷酸序列如SEQ ID NO19所示，對應的正常基因序列為SEQ ID NO17。
本發明還提供了突變的痣樣基底細胞癌症候群(NBCCS)致病基因編碼的蛋白，其胺基酸序列如SEQ ID NO4，SEQ ID NO8，SEQ IDNO12或SEQ ID NO16所示。
本發明還提供了一種體外檢測痣樣基底細胞癌症候群(NBCCS)致病基因突變的方法，該方法包括A針對痣樣基底細胞癌症候群(NBCCS)致病基因設計引物，進行PCR擴增；B對所述PCR產物進行分析；C鑑定痣樣基底細胞癌症候群(NBCCS)致病基因編碼區2156G/A位點是否為G。
分析方法可以採用PCR(聚合酶鏈反應)與直接測序法的結合，或者採用針對突變位點設計的寡核苷酸探針，或者採用PCR與限制性片段長度多態方法的結合。選擇可特異酶切突變序列處野生型序列的限制性內切酶Ava I對患者和正常對照的PTCH2exon15進行酶切，正常對照408bp的樣本DNA被切為128和280bp兩段，而NBCCS患者的PTCH2exon15樣本DNA由408bp被切為128，280和408bp三段。
本發明的再一個目的是提供檢測痣樣基底細胞癌症候群(NBCCS)致病基因突變的試劑盒，該試劑盒包括A用於擴增痣樣基底細胞癌症候群(NBCCS)致病基因的引物；BPCR擴增酶和相應緩衝液；C檢測該基因15號外顯子突變的試劑。
所述試劑可以是用螢光素、放射性同位素、酶等標記的核酸探針，或者是直接測序的試劑，或者是限制性內切酶。所述探針該例如可以含有與SEQ ID No1或3的部分核苷酸序列互補的核苷酸序列，所述部分核苷酸序列是一種至少包括編碼區第2156位鹼基，並且具有至少15到300個鹼基的DNA片段。
本發明的又一個目的是提供用於檢測痣樣基底細胞癌症候群(NBCCS)致病基因突變的探針，該探針含有與SEQ ID No1或3的部分核苷酸序列互補的核苷酸序列，所述部分核苷酸序列是一種至少包括編碼區第2156位鹼基，並且具有至少15到300個鹼基的DNA片段。
本發明的一個目的是針對痣樣基底細胞癌症候群(NBCCS)致病基因或其突變基因編碼的蛋白的抗體。
本發明的痣樣基底細胞癌症候群(NBCCS)致病基因或其突變基因的發現，為治療痣樣基底細胞癌症候群(NBCCS)提供了新的手段，例如，可以將正常基因導入突變細胞內，進行基因治療。
附圖簡述以下將通過附圖對本發明的有關內容作進一步的說明。


圖1為NBCCS的臨床及病理照片；圖1-a頜骨多發性牙源性角化囊腫，圖1-b分叉肋，圖1-c手足斑疹，圖1-d痣樣基底細胞癌。
圖2為Exon15的PCR產物膠圖；右數第3列為DL 2000Ladder。
圖3為酶切膠圖，左、右數第1列均為DL 2000Ladder。
圖4為帶突變基因和帶野生型基因的細胞的增殖結果，顯示突變基因的細胞較對照增殖增多，而野生型則抑制細胞增殖。
圖5為野生型和突變型基因抑制下遊基因的功能的對比，發現與野生型相比，突變型失去了該基因正常情況下抑制下遊基因的功能。
圖6為測序反應條件。
具體實施例方式
1、NBCCS致病基因的克隆發明人對採集到的NBCCS家系共9名患者，利用連鎖分析成功地將NBCCS致病基因定位於1p32.3～1p34.1；利用臨床檢查及資料分析符合NBCCS特徵的描述。
由圖1可見，NBCCS特徵是頜骨多發性牙源性角化囊腫(圖1-a)，分叉肋(圖1-b)，手足斑疹(圖1-c)，以及痣樣基底細胞癌(圖1-d)的病理結果。
在上述研究的基礎上，發明人利用常規的PCR擴增候選基因DNA和DNA測序分析等技術，成功地克隆了NBCCS基因，發現定位於1p32.3～1p34.1區段PTCH2基因就是NBCCS致病基因。正是由於PTCH2基因發生了突變，導致了NBCCS的發病。突變發生在PTCH2基因的exon15(15號外顯子)編碼區內，並在該家系所有患者的DNA樣品上得到了驗證。發明人通過PCR擴增，產物純化，測序的方法獲得exon15序列，具體方法步驟如下
PCR反應體系(體系各項試劑除DNA外均由美國PE公司提供，後同)ddH2O 7.08μlBuffer 1.5μlMgCl20.9μlQ液 3μldNTPs1.2μl基因組DNA0.6μlHot star Taq 0.12μl左向引物 0.3μl右向引物 0.3μlPCR反應總體積15μl左向引物序列ggtgctctttggtgctcttc右向引物序列gggagaccaggatagggttcPCR反應條件(Touch-down PCR)1.95℃ 15』2.95℃ 30」3.64℃ 1』4.72℃ 1』50」5.Go To Step 2，前12個循環退火溫度每次遞減0.5℃，後28個循環退火溫度固定為57-59℃30秒6.72℃ 10』7.4℃保持1％瓊脂糖凝膠檢查，膠圖見附圖2。
以上PCR反應均採用96孔板，在Perkin Elmer 9600或9700熱循環儀上進行PCR反應，膠圖照片採用Bio-Rad公司Gel-Doc攝像儀攝取。
PTCH2基因PCR擴增產物測序採用millipore公司的96孔純化板進行純化，按說明書操作測序反應體系

ddH2O補齊至10μl。
測序反應條件見圖6。
測序反應產物的純化1)每孔加入60μl 75％乙醇，votex混勻30秒2)4000RPM離心30分鐘，甩掉上清3)每孔加入100μl75％乙醇，4000RPM離心10分鐘，甩掉上清4)重複C步驟5)倒置於吸水紙上，離心至300RPM停止6)置於真空乾燥器低溫抽吸乾燥4分鐘7)上樣前每孔加20μl ddH2O(3700測序儀)2、NBCCS致病基因突變的檢測選擇可特異酶切突變序列處野生型序列的限制性內切酶Ava I對患者和正常對照的PTCH2exon15進行酶切，發現正常對照408bp的樣本DNA被切為128和280bp兩段(圖3右數第2、3列)，而NBCCS患者的PTCH2exon15樣本DNA由408bp被切為128，280和408bp三段(圖3左數第2-7列)，表明患者為雜合突變，突變序列未被切開。
酶切體系20μlPTCH2exon158μl10×Buffer 2μlBSA0.2μl限制性內切酶 1μlddH2O7.3μl酶切膠圖見附圖3。
對與NBCCS發生相關的PTCH2基因的突變體的功能進行研究，將正常PTCH2cDNA進行誘變得到突變體，轉化到NIH3T3細胞中，結果發現有突變基因的細胞較對照增殖增多，而野生型則抑制細胞增殖(附圖4)。將突變基因轉化入C3H10T1/2細胞中，發現與野生型相比，突變型失去了該基因正常情況下抑制下遊基因的功能(附圖5)。
我們推測野生型exon15突變後所編碼的蛋白質可能由於胺基酸組成的改變，從而降低或改變了該蛋白質正常時所具有的生物活性，失去了該基因正常情況下抑制下遊基因的功能，致使細胞增殖加快，向癌細胞轉化，從而導致NBCCS的發生。
3、檢測試劑盒的製備A、試劑盒組成引物ggtgctctttggtgctcttc 0.3ulgggagaccaggatagggttc 0.3ulHot star Taq酶 0.12ul緩衝液 1.5uldNTP 1.2ul
限制性內切酶Ava I，酶切圖譜。
B、使用方法1)採用上述PCR引物，Taq酶等進行PCR反應；2)PCR反應產物經純化後測序，將所得到的序列與正常基因序列對比確定突變是否存在；3)限制性內切酶Ava I酶切PCR產物；4)與試劑盒的酶切圖比較。
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4001atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu350 355 360 365gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr370 375 380acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg385 390 395gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met400 405 410ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly415 420 425gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala430 435 440 445ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe450 455 460ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala465 470 475ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu480 485 490tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn495 500 505
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1587Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg510 515 520 525gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1635Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala530 535 540gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1683Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg545 550 555cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1731His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser560 565 570gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1779Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val575 580 585cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac1827Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His590 595 600 605tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1875Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala610 615 620cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1923His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser625 630 635cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1971Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg640 645 650cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc2019Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala655 660 665cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct2067His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala670 675 680 685aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc2115Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu690 695 700tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg2163Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val705 710 715cct cgg ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac2211Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr720 725 730ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac2259Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr735 740 745gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2307Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser750 755 760 765ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2355Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp770 775 780ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2403Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp785 790 795cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2451Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白800 805 810tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2499Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp815 820 825gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg2547Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val830 835 840 845gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2595Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr850 855 860gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2643Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn865 870 875ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2691Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr880 885 890ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2739Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln895 900 905ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2787Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu910 915 920 925gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2835Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly930 935 940gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2883Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr945 950 955ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2931Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val960 965 970tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2979Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala975 980 985ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly990 995 1000 1005atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val1010 1015 1020atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His1025 1030 1035gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg1040 1045 1050gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly1055 1060 1065gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His1070 1075 1080ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu1085 1090 1095acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu1100 1105 1110ctg tcc atc ctg ggc ccg ccg cca gag gtg ata cag atg tac aag3387Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys1115 1120 1125gaa agc cca gag atc ctg agt cca cca gct cca cag gga ggc ggg3432Glu Ser Pro Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly1130 1135 1140ctt agg tgg ggg gca tcc tcc tcc ctg ccc cag agc ttt gcc aga3477Leu Arg Trp Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg1145 1150 1155gtg act acc tcc atg acc gtg gcc atc cac cca ccc ccc ctg cct3522Val Thr Thr Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro1160 1165 1170ggt gcc tac atc cat cca gcc cct gat gag ccc cct tgg tcc cct3567Gly Ala Tyr Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro1175 1180 1185gct gcc act agc tct ggc aac ctc agt tcc agg gga cca ggt cca3612Ala Ala Thr Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro1190 1195 1200gcc act ggg tga 3624Ala Thr Gly21022111203212PRT213人4002Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro355 360 365Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp370 375 380Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly385 390 395 400Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp405 410 415Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu420 425 430Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly435 440 445
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu450 455 460Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu465 470 475 480Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln485 490 495Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala500 505 510Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser515 520 525Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu530 535 540Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln545 550 555 560Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val565 570 575Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly580 585 590Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala595 600 605Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val610 615 620Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly625 630 635 640Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala645 650 655Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala660 665 670Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile675 680 685Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala690 695 700Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly705 710 715 720Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu725 730 735Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser740 745 750
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala755 760 765Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr770 775 780Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp785 790 795 800Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp805 810 815Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu820 825 830Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu835 840 845Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val850 855 860Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro865 870 875 880Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn885 890 895Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe900 905 910Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu915 920 925Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala930 935 940Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu945 950 955 960Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe965 970 975Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile980 985 990Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly995 1000 1005Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val1010 1015 1020Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu1025 1030 1035Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白1040 1045 1050Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser1055 1060 1065Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe1070 1075 1080Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu1085 1090 1095Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile1100 1105 1110Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro1115 1120 1125Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp1130 1135 1140Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr1145 1150 1155Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr1160 1165 1170Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr1175 1180 1185Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly1190 1195 120021032113624212DNA213人220
221CDS222(13)..(3621)223
4003atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291
Untitled[1][l][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc579Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu350 355 360 365gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr370 375 380
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt1203Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg385 390 395gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg1251Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met400 405 410ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg1299Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly415 420 425gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc1347Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala430 435 440 445ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc1395Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe450 455 460ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc1443Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala465 470 475ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag1491Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu480 485 490tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac1539Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn495 500 505atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1587Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg510 515 520 525gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1635Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala530 535 540gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1683Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg545 550 555cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1731His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser560 565 570gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1779Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val575 580 585cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac1827Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His590 595 600 605tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1875Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala610 615 620cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1923His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser625 630 635cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1971Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg640 645 650cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc2019Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Aan Leu Ala655 660 665cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct2067His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala670 675 680 685
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc2115Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu690 695 700tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg2163Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val705 710 715cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac2211Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr720 725 730ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac2259Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr735 740 745gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2307Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser750 755 760 765ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2355Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp770 775 780ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2403Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp785 790 795cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2451Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly800 805 810tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2499Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp815 820 825gcc cag gag cct ctg gat ttc agc cag ctg acc acg agg aag ctg gtg2547Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val830 835 840 845gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2595Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr850 855 860gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2643Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn865 870 875ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2691Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr880 885 890ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2739Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln895 900 905ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2787Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu910 915 920 925gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2835Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly930 935 940gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2883Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr945 950 955ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2931Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val960 965 970tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2979Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白975 980 985ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt3027Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly990 995 1000 1005atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val1010 1015 1020atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His1025 1030 1035gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg1040 1045 1050gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly1055 1060 1065gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His1070 1075 1080ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu1085 1090 1095acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu1100 1105 1110ctg tcc atc ctg ggc ccg ccg cca gag gtg ata cag atg tac aag 3387Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys1115 1120 1125gaa agc cca gag atc ctg agt cca cca gct cca cag gga ggc ggg 3432Glu Ser Pro Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly1130 1135 1140ctt agg tgg ggg gca tcc tcc tcc ctg ccc cag agc ttt gcc aga 3477Leu Arg Trp Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg1145 1150 1155gtg act acc tcc atg acc gtg gcc atc cac cca ccc ccc ctg cct 3522Val Thr Thr Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro1160 1165 1170ggt gcc tac atc cat cca gcc cct gat gag ccc cct tgg tcc cct 3567Gly Ala Tyr Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro1175 1180 1185gct gcc act agc tct ggc aac ctc agt tcc agg gga cca ggt cca 3612Ala Ala Thr Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro1190 1195 1200gcc act ggg tga 3624Ala Thr Gly21042111203212PRT213人4004Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro355 360 365Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp370 375 380Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly385 390 395 400Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp405 410 415Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu420 425 430Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly435 440 445Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu450 455 460Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu465 470 475 480Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln485 490 495Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala500 505 510Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser515 520 525Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu530 535 540Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln545 550 555 560Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val565 570 575Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly580 585 590Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala595 600 605Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val610 615 620
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly625 630 635 640Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala645 650 655Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala660 665 670Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile675 680 685Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala690 695 700Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Gln Gly705 710 715 720Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu725 730 735Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser740 745 750Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala755 760 765Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr770 775 780Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp785 790 795 800Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp805 810 815Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu820 825 830Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu835 840 845Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val850 855 860Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro865 870 875 880Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Ash885 890 895Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe900 905 910Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu915 920 925
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala930 935 940Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu945 950 955 960Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe965 970 975Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile980 985 990Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly995 1000 1005Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val1010 1015 1020Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu1025 1030 1035Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His1040 1045 1050Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser1055 1060 1065Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe1070 1075 1080Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu1085 1090 1095Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile1100 1105 1110Leu Gly Pro Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro1115 1120 1125Glu Ile Leu Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp1130 1135 1140Gly Ala Ser Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr1145 1150 1155Ser Met Thr Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr1160 1165 1170Ile His Pro Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr1175 1180 1185Ser Ser Gly Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly1190 1195 12002105
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白2113336212DNA213人220
221CDS222(13)..(3333)223
4005atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cea ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cag atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579Glu Gln Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag gtg ctg ccc ttc 1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe350 355 360 365ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1155Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala370 375 380ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1203Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu385 390 395tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1251Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn400 405 410atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga 1299Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg415 420 425gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc 1347Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala430 435 440 445gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc 1395Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg450 455 460cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct 1443His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser465 470 475gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta 1491Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val480 485 490cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac 1539Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His495 500 505tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc 1587Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala510 515 520 525cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc 1635His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser530 535 540cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg 1683Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg545 550 555
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc1731Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala560 565 570cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct1779His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala575 580 585aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc1827Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu590 595 600 605tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg1875Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val610 615 620cct cgg ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac1923Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr625 630 635ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac1971Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr640 645 650gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2019Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser655 660 665ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2067Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp670 675 680 685ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2115Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp690 695 700cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2163Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly705 710 715tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2211Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp720 725 730gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg2259Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val735 740 745gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2307Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr750 755 760 765gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2355Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn770 775 780ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2403Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr785 790 795ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2451Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln800 805 810ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2499Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu815 820 825gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2547Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly830 835 840 845gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2595Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr850 855 860
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2643Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val865 870 875tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2691Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala880 885 890ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt2739Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly895 900 905atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg atc2787Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile910 915 920 925ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac gtg gct2835Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala930 935 940ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg gcc gcc cat2883Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His945 950 955gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg gcc atc tcc aca2931Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr960 965 970ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac ttt gac ttc att gta2979Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val975 980 985agg tac ttc ttt gcg gcg ctg aca gtg ctc acg ctc ctg ggc ctc ctc 3027Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu990 995 1000 1005cat gga ctc gtg ctg ctg cct gtg ctg ctg tcc atc ctg ggc ccg 3072His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro1010 1015 1020ccg cca gag gtg ata cag atg tac aag gaa agc cca gag atc ctg 3117Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu1025 1030 1035agt cca cca gct cca cag gga ggc ggg ctt agg tgg ggg gca tcc 3162Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser1040 1045 1050tcc tcc ctg ccc cag agc ttt gcc aga gtg act acc tcc atg acc 3207Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr1055 1060 1065gtg gcc atc cac cca ccc ccc ctg cct ggt gcc tac atc cat cca 3252Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro1070 1075 1080gcc cct gat gag ccc cct tgg tcc cct gct gcc act agc tct ggc 3297Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly1085 1090 1095aac ctc agt tcc agg gga cca ggt cca gcc act ggg tga 3336Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly1100 110521062111107212PRT213人4006Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Gln Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe Leu Ala Leu355 360 365Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu370 375 380Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln385 390 395 400Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala405 410 415Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser420 425 430Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu435 440 445Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln450 455 460Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val465 470 475 480Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly485 490 495Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala500 505 510Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val515 520 525Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly530 535 540Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala545 550 555 560Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala565 570 575Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile580 585 590Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala595 600 605
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly610 615 620Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu625 630 635 640Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser645 650 655Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala660 665 670Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr675 680 685Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp690 695 700Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp705 710 715 720Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu725 730 735Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu740 745 750Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val755 760 765Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro770 775 780Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn785 790 795 800Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe805 810 815Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu820 825 830Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala835 840 845Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu850 855 860Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe865 870 875 880Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile885 890 895Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly900 905 910
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val Ala915 920 925Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu Gly Phe930 935 940Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His Ala Leu Glu945 950 955 960His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr Leu Leu Gly965 970 975Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val Arg Tyr Phe980 985 990Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu His Gly Leu995 1000 1005Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro Pro Pro Glu1010 1015 1020Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu Ser Pro Pro1025 1030 1035Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser Ser Ser Leu1040 1045 1050Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr Val Ala Ile1055 1060 1065His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro Ala Pro Asp1070 1075 1080Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly Asn Leu Ser1085 1090 1095Ser Arg Gly Pro Gly Pro Ala Thr Gly1100 110521072113336212DNA213人220
221CDS222(13)..(3333)223
4007atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cag atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc579Glu Gln Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag gtg ctg ccc ttc1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe350 355 360 365ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc1155Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala370 375 380ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag1203Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu385 390 395tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac1251Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn400 405 410atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1299Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg415 420 425gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1347Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala430 435 440 445gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1395Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg450 455 460cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1443His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser465 470 475gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1491Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val480 485 490cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac1539Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His495 500 505tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1587Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala510 515 520 525cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1635His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser530 535 540cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1683Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg545 550 555cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc1731Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala560 565 570cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct1779His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala575 580 585aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc1827Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu590 595 600 605tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg1875Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val610 615 620cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac1923Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr625 630 635ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac1971
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr640 645 650gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2019Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser655 660 665ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2067Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp670 675 680 685ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2115Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp690 695 700cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2163Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly705 710 715tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2211Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp720 725 730gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg2259Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val735 740 745gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2307Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr750 755 760 765gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2355Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn770 775 780ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2403Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr785 790 795ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2451Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln800 805 810ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2499Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu815 820 825gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2547Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly830 835 840 845gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2595Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr850 855 860ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2643Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val865 870 875tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2691Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala880 885 890ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt2739Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly895 900 905atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg atc2787Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile910 915 920 925ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac gtg gct2835Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala930 935 940
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg gcc gcc cat2883Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His945 950 955gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg gcc atc tcc aca2931Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr960 965 970ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac ttt gac ttc att gta2979Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val975 980 985agg tac ttc ttt gcg gcg ctg aca gtg ctc acg ctc ctg ggc ctc ctc 3027Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu990 995 1000 1005cat gga ctc gtg ctg ctg cct gtg ctg ctg tcc atc ctg ggc ccg 3072His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro1010 1015 1020ccg cca gag gtg ata cag atg tac aag gaa agc cca gag atc ctg 3117Pro Pro Glu Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu1025 1030 1035agt cca cca gct cca cag gga ggc ggg ctt agg tgg ggg gca tcc 3162Ser Pro Pro Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser1040 1045 1050tcc tcc ctg ccc cag agc ttt gcc aga gtg act acc tcc atg acc 3207Ser Ser Leu Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr1055 1060 1065gtg gcc atc cac cca ccc ccc ctg cct ggt gcc tac atc cat cca 3252Val Ala Ile His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro1070 1075 1080gcc cct gat gag ccc cct tgg tcc cct gct gcc act agc tct ggc 3297Ala Pro Asp Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly1085 1090 1095aac ctc agt tcc agg gga cca ggt cca gcc act ggg tga 3336Asn Leu Ser Ser Arg Gly Pro Gly Pro Ala Thr Gly1100 110521082111107212PRT213人4008Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Gln Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Val Leu Pro Phe Leu Ala Leu355 360 365Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu370 375 380Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln385 390 395 400
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala405 410 415Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser420 425 430Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu435 440 445Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln450 455 460Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val465 470 475 480Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly485 490 495Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala500 505 510Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val515 520 525Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly530 535 540Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala545 550 555 560Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala565 570 575Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile580 585 590Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala595 600 605Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Gln Gly610 615 620Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu625 630 635 640Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser645 650 655Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala660 665 670Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr675 680 685Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白690 695 700Ala Ser Gly Arg Ile Thr Arg Hi s Ser Tyr Arg Asn Gly Ser Glu Asp705 710 715 720Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu725 730 735Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu740 745 750Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val755 760 765Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro770 775 780Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn785 790 795 800Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe805 810 815Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu820 825 830Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala835 840 845Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu850 855 860Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe865 870 875 880Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile885 890 895Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly900 905 910Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val Ala915 920 925Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu Gly Phe930 935 940Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His Ala Leu Glu945 950 955 960His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser Thr Leu Leu Gly965 970 975Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe Ile Val Arg Tyr Phe980 985 990
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Phe Ala Ala Leu Thr Val Leu Thr Leu Leu Gly Leu Leu His Gly Leu995 1000 1005Val Leu Leu Pro Val Leu Leu Ser Ile Leu Gly Pro Pro Pro Glu1010 1015 1020Val Ile Gln Met Tyr Lys Glu Ser Pro Glu Ile Leu Ser Pro Pro1025 1030 1035Ala Pro Gln Gly Gly Gly Leu Arg Trp Gly Ala Ser Ser Ser Leu1040 1045 1050Pro Gln Ser Phe Ala Arg Val Thr Thr Ser Met Thr Val Ala Ile1055 1060 1065His Pro Pro Pro Leu Pro Gly Ala Tyr Ile His Pro Ala Pro Asp1070 1075 1080Glu Pro Pro Trp Ser Pro Ala Ala Thr Ser Ser Gly Asn Leu Ser1085 1090 1095Ser Arg Gly Pro Gly Pro Ala Thr Gly1100 110521092113524212DNA213人220
221CDS222(13)..(3270)223
4009atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg 723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg 771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc 819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc 867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc 915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu350 355 360 365gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc1155Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr370 375 380acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt1203Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg385 390 395gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg1251Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met400 405 410ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg1299Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly415 420 425
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc1347Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala430 435 440 445ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc1395Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe450 455 460ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc1443Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala465 470 475ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag1491Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu480 485 490tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac1539Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn495 500 505atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1587Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg510 515 520 525gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1635Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala530 535 540gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1683Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg545 550 555cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1731His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser560 565 570gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1779Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val575 580 585cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac1827Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His590 595 600 605tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1875Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala610 615 620cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1923His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser625 630 635cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1971Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg640 645 650cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc2019Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala655 660 665cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct2067His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala670 675 680 685aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc2115Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu690 695 700tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg2163Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val705 710 715cct cgg ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac2211Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白720 725 730ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac2259Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr735 740 745gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2307Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser750 755 760 765ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2355Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp770 775 780ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2403Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp785 790 795cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2451Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly800 805 810tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2499Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp815 820 825gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg2547Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val830 835 840 845gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2595Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr850 855 860gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2643Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn865 870 875ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2691Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr880 885 890ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2739Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln895 900 905ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2787Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu910 915 920 925gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2835Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly930 935 940gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2883Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr945 950 955ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2931Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val960 965 970tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2979Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala975 980 985ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly990 995 1000 1005atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val1010 1015 1020atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His1025 1030 1035gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg1040 1045 1050gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly1055 1060 1065gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His1070 1075 1080ttt gac ttc att gta agg tgatacagat gtacaaggaa agcccagaga 3300Phe Asp Phe Ile Val Arg1085tcctgagtcc accagctcca cagggaggcg ggcttaggtg gggggcatcc tcctccctgc 3360cccagagctt tgccagagtg actacctcca tgaccgtggc catccaccca ccccccctgc 3420ctggtgccta catccatcca gcccctgatg agcccccttg gtcccctgct gccactagct 3480ctggcaacct cagttccagg ggaccaggtc cagccactgg gtga 3524210102111086212PRT213人40010Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro355 360 365Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp370 375 380Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly385 390 395 400Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp405 410 415Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu420 425 430Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly435 440 445Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu450 455 460
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu465 470 475 480Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln485 490 495Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala500 505 510Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser515 520 525Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu530 535 540Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln545 550 555 560Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val565 570 575Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly580 585 590Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala595 600 605Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val610 615 620Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly625 630 635 640Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala645 650 655Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala660 665 670Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile675 680 685Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala690 695 700Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly705 710 715 720Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu725 730 735Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser740 745 750Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala755 760 765
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr770 775 780Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp785 790 795 800Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp805 810 815Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu820 825 830Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu835 840 845Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val850 855 860Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro865 870 875 880Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn885 890 895Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe900 905 910Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu915 920 925Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala930 935 940Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu945 950 955 960Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe965 970 975Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile980 985 990Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly995 1000 1005Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val1010 1015 1020Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu1025 1030 1035Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His1040 1045 1050Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白1055 1060 1065Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe1070 1075 1080Ile Val Arg1085210112113524212DNA213人220
221CDS222(13)..(3270)223
40011atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc 579Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg 627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg 675
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu350 355 360 365gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr370 375 380acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg385 390 395gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met400 405 410ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly415 420 425gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala430 435 440 445ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe450 455 460ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc 1443Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala465 470 475ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag 1491Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu480 485 490tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac 1539Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn495 500 505
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1587Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg510 515 520 525gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1635Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala530 535 540gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1683Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg545 550 555cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1731His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser560 565 570gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1779Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val575 580 585cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac1827Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His590 595 600 605tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1875Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala610 615 620cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1923His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser625 630 635cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1971Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg640 645 650cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc2019Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala655 660 665cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct2067His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala670 675 680 685aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc2115Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu690 695 700tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg2163Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val705 710 715cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac2211Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr720 725 730ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac2259Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr735 740 745gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2307Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser750 755 760 765ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2355Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp770 775 780ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2403Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp785 790 795cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2451Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly800 805 810
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2499Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp815 820 825gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg2547Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val830 835 840 845gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2595Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr850 855 860gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2643Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn865 870 875ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2691Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr880 885 890ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2739Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln895 900 905ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2787Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu910 915 920 925gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2835Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly930 935 940gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2883Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr945 950 955ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2931Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val960 965 970tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2979Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala975 980 985ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly990 995 1000 1005atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val1010 1015 1020atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His1025 1030 1035gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg1040 1045 1050gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly1055 1060 1065gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His1070 1075 1080ttt gac ttc att gta agg tgatacagat gtacaaggaa agcccagaga 3300Phe Asp Phe Ile Val Arg1085tcctgagtcc accagctcca cagggaggcg ggcttaggtg gggggcatcc tcctccctgc 3360
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白cccagagctt tgccagagtg actacctcca tgaccgtggc catccaccca ccccccctgc 3420ctggtgccta catccatcca gcccctgatg agcccccttg gtcccctgct gccactagct 3480ctggcaacct cagttccagg ggaccaggtc cagccactgg gtga 3524210122111086212PRT213人40012Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro355 360 365Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp370 375 380Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly385 390 395 400Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp405 410 415Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu420 425 430Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly435 440 445Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu450 455 460Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu465 470 475 480Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln485 490 495Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala500 505 510Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser515 520 525Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu530 535 540
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln545 550 555 560Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val565 570 575Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly580 585 590Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala595 600 605Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val610 615 620Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly625 630 635 640Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala645 650 655Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala660 665 670Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile675 680 685Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala690 695 700Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Gln Gly705 710 715 720Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu725 730 735Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser740 745 750Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala755 760 765Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr770 775 780Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp785 790 795 800Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp805 810 815Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu820 825 830Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu835 840 845
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val850 855 860Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn Phe Tyr Pro865 870 875 880Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn885 890 895Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe900 905 910Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu915 920 925Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala930 935 940Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu945 950 955 960Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe965 970 975Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile980 985 990Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly995 1000 1005Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val1010 1015 1020Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu1025 1030 1035Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His1040 1045 1050Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser1055 1060 1065Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe1070 1075 1080Ile Val Arg1085210132113768212DNA213人220
221CDS222(13)..(3579)223
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白40013atccccgcca ge atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt 51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att531Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cgg atg att gag aag ctg ttt ccg tgc gtg atc ctc acc ccc ctc579Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag 963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu350 355 360 365gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc1155Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr370 375 380acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt1203Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg385 390 395gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg1251Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met400 405 410ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg1299Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly415 420 425gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc1347Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala430 435 440 445ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc1395Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe450 455 460ttg gct ctg gga atc ggc gtg gat gac gta ttc ctg ctg gcg cat gcc1443Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala465 470 475ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag149lPhe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu480 485 490tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac1539Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn495 500 505atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1587Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg510 515 520 525gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1635Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala530 535 540gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1683Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg545 550 555cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1731His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser560 565 570gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1779Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val575 580 585cca gtg ggc att gcc cac ctc act gcc aca gtt csa gcc ttt acc cac1827
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His590 595 600 605tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1875Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala610 615 620cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1923His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser625 630 635cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1971Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg640 645 650cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc2019Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala655 660 665cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct2067His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala670 675 680 685aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc2115Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu690 695 700tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg2163Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val705 710 715cct cgg ggc acc aag gag cat gcc ttc ctg age gcc cag ctc agg tac2211Pro Arg Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr720 725 730ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac2259Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr735 740 745gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2307Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser750 755 760 765ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2355Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp770 775 780ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2403Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp785 790 795cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2451Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly800 805 810tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2499Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp815 820 825gcc cag gag cct ctg gat ttc age cag ctg acc aca agg aag ctg gtg2547Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val830 835 840 845gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2595Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr850 855 860gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2643Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn865 870 875ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2691Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr880 885 890
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白ggg gag aac ctt cgc atc ecg cca gct cag ccc ttg gag ttt gcc cag2739Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln895 900 905ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2787Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu910 915 920 925gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2835Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly930 935 940gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2883Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr945 950 955ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2931Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val960 965 970tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2979Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala975 980 985ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly990 995 1000 1005atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val1010 1015 1020atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His1025 1030 1035gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg1040 1045 1050gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly1055 1060 1065gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His1070 1075 1080ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu1085 1090 1095acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu1100 1105 1110ctg tcc atc ctg ggc ccg ccg cca gag gtg acc aca ccc tcg gca 3387Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Thr Thr Pro Ser Ala1115 1120 1125cca tcc ctc tac tcc cag ccc aag gga cgg ggt agg gag agg caa 3432Pro Ser Leu Tyr Ser Gln Pro Lys Gly Arg Gly Arg Glu Arg Gln1130 1135 1140ggg aag gga cag agc cct gtg gcc cac aga cag gta cct ccc caa 3477Gly Lys Gly Gln Ser Pro Val Ala His Arg Gln Val Pro Pro Gln1145 1150 1155cag gtg cca cca gct gaa ggt ggc agc ctc ctc ctt tcc cca gac 3522Gln Val Pro Pro Ala Glu Gly Gly Ser Leu Leu Leu Ser Pro Asp1160 1165 1170acc atg ttc ctg ccc ctc agc cct cct ggc ttc ttc atg gga ccc 3567Thr Met Phe Leu Pro Leu Ser Pro Pro Gly Phe Phe Met Gly Pro1175 1180 1185
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白acc tta gac ttt taggatccag aacaaggtgc agggtttgcc ccaggcctca3619Thr Leu Asp Pheacatcctgtc gcctgccagc tctcatatcc tgctggagac caacaagggc cccagcttcc 3679caacagtcat ggtaatcccc agcgagatgc taaaggggac gggagcccca ggggcccgtg 3739ggcttactgg ggctggtgtc tccccacag3768210142111189212PRT213人40014Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile Glu Arg Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro355 360 365Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp370 375 380Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly385 390 395 400Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp405 410 415Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu420 425 430Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly435 440 445Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu450 455 460Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu465 470 475 480Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln485 490 495Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala500 505 510Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser515 520 525
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu530 535 540Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln545 550 555 560Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val565 570 575Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly580 585 590Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala595 600 605Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val610 615 620Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly625 630 635 640Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala645 650 655Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala660 665 670Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile675 680 685Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala690 695 700Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val Pro Arg Gly705 710 715 720Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr Phe Ser Leu725 730 735Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr Ala His Ser740 745 750Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser Leu Lys Ala755 760 765Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp Leu His Tyr770 775 780Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp Gln Asp Trp785 790 795 800Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly Ser Glu Asp805 810 815Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp Ala Gln Glu820 825 830
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val Asp Arg Glu835 840 845Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr Val Trp Val850 855 860Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Ash Phe Tyr Pro865 870 875 880Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr Gly Glu Asn885 890 895Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln Phe Pro Phe900 905 910Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu Ala Ile Glu915 920 925Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly Val His Ala930 935 940Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr Leu Gly Leu945 950 955 960Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val Cys Thr Phe965 970 975Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala Gly Leu Ile980 985 990Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly Ile Met Gly995 1000 1005Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val Ile Leu Val1010 1015 1020Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His Val Ala Leu1025 1030 1035Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg Ala Ala His1040 1045 1050Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly Ala Ile Ser1055 1060 1065Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His Phe Asp Phe1070 1075 1080Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu Thr Leu Leu1085 1090 1095Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu Leu Ser Ile1100 1105 1110Leu Gly Pro Pro Pro Glu Val Thr Thr Pro Ser Ala Pro Ser Leu
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白1115 1120 1125Tyr Ser Gln Pro Lys Gly Arg Gly Arg Glu Arg Gln Gly Lys Gly1130 1135 1140Gln Ser Pro Val Ala His Arg Gln Val Pro Pro Gln Gln Val Pro1145 1150 1155Pro Ala Glu Gly Gly Ser Leu Leu Leu Ser Pro Asp Thr Met Phe1160 1165 1170Leu Pro Leu Ser Pro Pro Gly Phe Phe Met Gly Pro Thr Leu Asp1175 1180 1185Phe210152113768212DNA213人220
221CDS222(13)..(3579)223
40015atccccgcca gc atg act cga tcg ccg ccc ctc aga gag ctg ccc ccg agt51Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser1 5 10tac aca ccc cca gct cga acc gca gca ccc cag atc cta gct ggg agc 99Tyr Thr Pro Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser15 20 25ctg aag gct cca ctc tgg ctt cgt gct tac ttc cag ggc ctg ctc ttc 147Leu Lys Ala Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe30 35 40 45tct ctg gga tgc ggg atc cag aga cat tgt ggc aaa gtg ctc ttt ctg 195Ser Leu Gly Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu50 55 60gga ctg ttg gcc ttt ggg gcc ctg gca tta ggt ctc cgc atg gcc att 243Gly Leu Leu Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile65 70 75att gag aca aac ttg gaa cag ctc tgg gta gaa gtg ggc agc cgg gtg 291Ile Glu Thr Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val80 85 90agc cag gag ctg cat tac acc aag gag aag ctg ggg gag gag gct gca 339Ser Gln Glu Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala95 100 105tac acc tct cag atg ctg ata cag acc gca cgc cag gag gga gag aac 387Tyr Thr Ser Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn110 115 120 125atc ctc aca ccc gaa gca ctt ggc ctc cac ctc cag gca gcc ctc act 435Ile Leu Thr Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr130 135 140gcc agt aaa gtc caa gta tca ctc tat ggg aag tcc tgg gat ttg aac 483Ala Ser Lys Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn145 150 155aaa atc tgc tac aag tca gga gtt ccc ctt att gaa aat gga atg att 531
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Lys Ile Cys Tyr Lys Ser Gly Val Pro Leu Ile Glu Asn Gly Met Ile160 165 170gag cgg atg att gag aag ctg ttt cog tgc gtg atc ctc acc ccc ctc579Glu Arg Met Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu175 180 185gac tgc ttc tgg gag gga gcc aaa ctc caa ggg ggc tcc gcc tac ctg627Asp Cys Phe Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu190 195 200 205ccc ggc cgc ccg gat atc cag tgg acc aac ctg gat cca gag cag ctg675Pro Gly Arg Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu210 215 220ctg gag gag ctg ggt ccc ttt gcc tcc ctt gag ggc ttc cgg gag ctg723Leu Glu Glu Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu225 230 235cta gac aag gca cag gtg ggc cag gcc tac gtg ggg cgg ccc tgt ctg771Leu Asp Lys Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu240 245 250cac cct gat gac ctc cac tgc cca cct agt gcc ccc aac cat cac agc819His Pro Asp Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser255 260 265agg cag gct ccc aat gtg gct cac gag ctg agt ggg ggc tgc cat ggc867Arg Gln Ala Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly270 275 280 285ttc tcc cac aaa ttc atg cac tgg cag gag gaa ttg ctg ctg gga ggc915Phe Ser His Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly290 295 300atg gcc aga gac ccc caa gga gag ctg ctg agg gca gag gcc ctg cag963Met Ala Arg Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln305 310 315agc acc ttc ttg ctg atg agt ccc cgc cag ctg tac gag cat ttc cgg 1011Ser Thr Phe Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg320 325 330ggt gac tat cag aca cat gac att ggc tgg agt gag gag cag gcc agc 1059Gly Asp Tyr Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser335 340 345aca gtg cta caa gcc tgg cag cgg cgc ttt gtg cag ctg gcc cag gag 1107Thr Val Leu Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu350 355 360 365gcc ctg cct gag aac gct tcc cag cag atc cat gcc ttc tcc tcc acc 1155Ala Leu Pro Glu Asn Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr370 375 380acc ctg gat gac atc ctg cat gcg ttc tct gaa gtc agt gct gcc cgt 1203Thr Leu Asp Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg385 390 395gtg gtg gga ggc tat ctg ctc atg ctg gcc tat gcc tgt gtg acc atg 1251Val Val Gly Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met400 405 410ctg cgg tgg gac tgc gcc cag tcc cag ggt tcc gtg ggc ctt gcc ggg 1299Leu Arg Trp Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly415 420 425gta ctg ctg gtg gcc ctg gcg gtg gcc tca ggc ctt ggg ctc tgt gcc 1347Val Leu Leu Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala430 435 440 445ctg ctc ggc atc acc ttc aat gct gcc act acc cag gtg ctg ccc ttc 1395Leu Leu Gly Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe450 455 460
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白ttg gct ctg gga ate ggc gtg gat gac gta ttc ctg ctg gcg cat gcc1443Leu Ala Leu Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala465 470 475ttc aca gag gct ctg cct ggc acc cct ctc cag gag cgc atg ggc gag1491Phe Thr Glu Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu480 485 490tgt ctg cag cgc acg ggc acc agt gtc gta ctc aca tcc atc aac aac1539Cys Leu Gln Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn495 500 505atg gcc gcc ttc ctc atg gct gcc ctc gtt ccc atc cct gcg ctg cga1587Met Ala Ala Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg510 515 520 525gcc ttc tcc cta cag gcg gcc ata gtg gtt ggc tgc acc ttt gta gcc1635Ala Phe Ser Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala530 535 540gtg atg ctt gtc ttc cca gcc atc ctc agc ctg gac cta cgg cgg cgc1683Val Met Leu Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg545 550 555cac tgc cag cgc ctt gat gtg ctc tgc tgc ttc tcc agt ccc tgc tct1731His Cys Gln Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser560 565 570gct cag gtg att cag atc ctg ccc cag gag ctg ggg gac ggg aca gta1779Ala Gln Val Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val575 580 585cca gtg ggc att gcc cac ctc act gcc aca gtt caa gcc ttt acc cac1827Pro Val Gly Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His590 595 600 605tgt gaa gcc agc agc cag cat gtg gtc acc atc ctg cct ccc caa gcc1875Cys Glu Ala Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala610 615 620cac ctg gtg ccc cca cct tct gac cca ctg ggc tct gag ctc ttc agc1923His Leu Val Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser625 630 635cct gga ggg tcc aca cgg gac ctt cta ggc cag gag gag gag aca agg1971Pro Gly Gly Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg640 645 650cag aag gca gcc tgc aag tcc ctg ccc tgt gcc cgc tgg aat ctt gcc2019Gln Lys Ala Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala655 660 665cat ttc gcc cgc tat cag ttt gcc ccg ttg ctg ctc cag tca cat gct2067His Phe Ala Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala670 675 680 685aag gcc atc gtg ctg gtg ctc ttt ggt gct ctt ctg ggc ctg agc ctc2115Lys Ala Ile Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu690 695 700tac gga gcc acc ttg gtg caa gac ggc ctg gcc ctg acg gat gtg gtg2163Tyr Gly Ala Thr Leu Val Gln Asp Gly Leu Ala Leu Thr Asp Val Val705 710 715cct cag ggc acc aag gag cat gcc ttc ctg agc gcc cag ctc agg tac2211Pro Gln Gly Thr Lys Glu His Ala Phe Leu Ser Ala Gln Leu Arg Tyr720 725 730ttc tcc ctg tac gag gtg gcc ctg gtg acc cag ggt ggc ttt gac tac2259Phe Ser Leu Tyr Glu Val Ala Leu Val Thr Gln Gly Gly Phe Asp Tyr735 740 745gcc cac tcc caa cgc gcc ctc ttt gat ctg cac cag cgc ttc agt tcc2307Ala His Ser Gln Arg Ala Leu Phe Asp Leu His Gln Arg Phe Ser Ser750 755 760 765
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白ctc aag gcg gtg ctg ccc cca ccg gcc acc cag gca ccc cgc acc tgg2355Leu Lys Ala Val Leu Pro Pro Pro Ala Thr Gln Ala Pro Arg Thr Trp770 775 780ctg cac tat tac cgc aac tgg cta cag gga atc cag gct gcc ttt gac2403Leu His Tyr Tyr Arg Asn Trp Leu Gln Gly Ile Gln Ala Ala Phe Asp785 790 795cag gac tgg gct tct ggg cgc atc acc cgc cac tcg tac cgc aat ggc2451Gln Asp Trp Ala Ser Gly Arg Ile Thr Arg His Ser Tyr Arg Asn Gly800 805 810tct gag gat ggg gcc ctg gcc tac aag ctg ctc atc cag act gga gac2499Ser Glu Asp Gly Ala Leu Ala Tyr Lys Leu Leu Ile Gln Thr Gly Asp815 820 825gcc cag gag cct ctg gat ttc agc cag ctg acc aca agg aag ctg gtg2547Ala Gln Glu Pro Leu Asp Phe Ser Gln Leu Thr Thr Arg Lys Leu Val830 835 840 845gac aga gag gga ctg att cca ccc gag ctc ttc tac atg ggg ctg acc2595Asp Arg Glu Gly Leu Ile Pro Pro Glu Leu Phe Tyr Met Gly Leu Thr850 855 860gtg tgg gtg agc agt gac ccc ctg ggt ctg gca gcc tca cag gcc aac2643Val Trp Val Ser Ser Asp Pro Leu Gly Leu Ala Ala Ser Gln Ala Asn865 870 875ttc tac ccc cca cct cct gaa tgg ctg cac gac aaa tac gac acc acg2691Phe Tyr Pro Pro Pro Pro Glu Trp Leu His Asp Lys Tyr Asp Thr Thr880 885 890ggg gag aac ctt cgc atc ccg cca gct cag ccc ttg gag ttt gcc cag2739Gly Glu Asn Leu Arg Ile Pro Pro Ala Gln Pro Leu Glu Phe Ala Gln895 900 905ttc ccc ttc ctg ctg cgt ggc ctc cag aag act gca gac ttt gtg gag2787Phe Pro Phe Leu Leu Arg Gly Leu Gln Lys Thr Ala Asp Phe Val Glu910 915 920 925gcc atc gag ggg gcc cgg gca gca tgc gca gag gcc ggc cag gct ggg2835Ala Ile Glu Gly Ala Arg Ala Ala Cys Ala Glu Ala Gly Gln Ala Gly930 935 940gtg cac gcc tac ccc agc ggc tcc ccc ttc ctc ttc tgg gaa cag tat2883Val His Ala Tyr Pro Ser Gly Ser Pro Phe Leu Phe Trp Glu Gln Tyr945 950 955ctg ggc ctg cgg cgc tgc ttc ctg ctg gcc gtc tgc atc ctg ctg gtg2931Leu Gly Leu Arg Arg Cys Phe Leu Leu Ala Val Cys Ile Leu Leu Val960 965 970tgc act ttc ctc gtc tgt gct ctg ctg ctc ctc aac ccc tgg acg gct2979Cys Thr Phe Leu Val Cys Ala Leu Leu Leu Leu Asn Pro Trp Thr Ala975 980 985ggc ctc ata gtg ctg gtc ctg gcg atg atg aca gtg gaa ctc ttt ggt 3027Gly Leu Ile Val Leu Val Leu Ala Met Met Thr Val Glu Leu Phe Gly990 995 1000 1005atc atg ggt ttc ctg ggc atc aag ctg agt gcc atc ccc gtg gtg 3072Ile Met Gly Phe Leu Gly Ile Lys Leu Ser Ala Ile Pro Val Val1010 1015 1020atc ctt gtg gcc tct gta ggc att ggc gtt gag ttc aca gtc cac 3117Ile Leu Val Ala Ser Val Gly Ile Gly Val Glu Phe Thr Val His1025 1030 1035gtg gct ctg ggc ttc ctg acc acc cag ggc agc cgg aac ctg cgg 3162Val Ala Leu Gly Phe Leu Thr Thr Gln Gly Ser Arg Asn Leu Arg1040 1045 1050gcc gcc cat gcc ctt gag cac aca ttt gcc ccc gtg acc gat ggg 3207Ala Ala His Ala Leu Glu His Thr Phe Ala Pro Val Thr Asp Gly
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白1055 1060 1065gcc atc tcc aca ttg ctg ggt ctg ctc atg ctt gct ggt tcc cac 3252Ala Ile Ser Thr Leu Leu Gly Leu Leu Met Leu Ala Gly Ser His1070 1075 1080ttt gac ttc att gta agg tac ttc ttt gcg gcg ctg aca gtg ctc 3297Phe Asp Phe Ile Val Arg Tyr Phe Phe Ala Ala Leu Thr Val Leu1085 1090 1095acg ctc ctg ggc ctc ctc cat gga ctc gtg ctg ctg cct gtg ctg 3342Thr Leu Leu Gly Leu Leu His Gly Leu Val Leu Leu Pro Val Leu1100 1105 1110ctg tcc atc ctg ggc ccg ccg cca gag gtg acc aca ccc tcg gca 3387Leu Ser Ile Leu Gly Pro Pro Pro Glu Val Thr Thr Pro Ser Ala1115 1120 1125cea tcc ctc tac tcc cag ccc aag gga cgg ggt agg gag agg caa 3432Pro Ser Leu Tyr Ser Gln Pro Lys Gly Arg Gly Arg Glu Arg Gln1130 1135 1140ggg aag gga cag agc cct gtg gcc cac aga cag gta cct ccc caa 3477Gly Lys Gly Gln Ser Pro Val Ala His Arg Gln Val Pro Pro Gln1145 1150 1155cag gtg cca cca gct gaa ggt ggc agc ctc ctc ctt tcc cca gac 3522Gln Val Pro Pro Ala Glu Gly Gly Ser Leu Leu Leu Ser Pro Asp1160 1165 1170acc atg ttc ctg ccc ctc agc cct cct ggc ttc ttc atg gga ccc 3567Thr Met Phe Leu Pro Leu Ser Pro Pro Gly Phe Phe Met Gly Pro1175 1180 1185acc tta gac ttt taggatccag aacaaggtgc agggtttgcc ccaggcctca3619Thr Leu Asp Pheacatcctgtc gcctgccagc tctcatatcc tgctggagac caacaagggc cccagcttcc 3679caacagtcat ggtaatcccc agcgagatgc taaaggggac gggagcccca ggggcccgtg 3739ggcttactgg ggctggtgtc tccccacag3768210162111189212PRT213人40016Met Thr Arg Ser Pro Pro Leu Arg Glu Leu Pro Pro Ser Tyr Thr Pro1 5 10 15Pro Ala Arg Thr Ala Ala Pro Gln Ile Leu Ala Gly Ser Leu Lys Ala20 25 30Pro Leu Trp Leu Arg Ala Tyr Phe Gln Gly Leu Leu Phe Ser Leu Gly35 40 45Cys Gly Ile Gln Arg His Cys Gly Lys Val Leu Phe Leu Gly Leu Leu50 55 60Ala Phe Gly Ala Leu Ala Leu Gly Leu Arg Met Ala Ile Ile Glu Thr65 70 75 80Asn Leu Glu Gln Leu Trp Val Glu Val Gly Ser Arg Val Ser Gln Glu85 90 95
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Leu His Tyr Thr Lys Glu Lys Leu Gly Glu Glu Ala Ala Tyr Thr Ser100 105 110Gln Met Leu Ile Gln Thr Ala Arg Gln Glu Gly Glu Asn Ile Leu Thr115 120 125Pro Glu Ala Leu Gly Leu His Leu Gln Ala Ala Leu Thr Ala Ser Lys130 135 140Val Gln Val Ser Leu Tyr Gly Lys Ser Trp Asp Leu Asn Lys Ile Cys145 150 155 160Tyr Lys Ser Gly Val Pro Leu Ile Glu Ash Gly Met Ile Glu Arg Met165 170 175Ile Glu Lys Leu Phe Pro Cys Val Ile Leu Thr Pro Leu Asp Cys Phe180 185 190Trp Glu Gly Ala Lys Leu Gln Gly Gly Ser Ala Tyr Leu Pro Gly Arg195 200 205Pro Asp Ile Gln Trp Thr Asn Leu Asp Pro Glu Gln Leu Leu Glu Glu210 215 220Leu Gly Pro Phe Ala Ser Leu Glu Gly Phe Arg Glu Leu Leu Asp Lys225 230 235 240Ala Gln Val Gly Gln Ala Tyr Val Gly Arg Pro Cys Leu His Pro Asp245 250 255Asp Leu His Cys Pro Pro Ser Ala Pro Asn His His Ser Arg Gln Ala260 265 270Pro Asn Val Ala His Glu Leu Ser Gly Gly Cys His Gly Phe Ser His275 280 285Lys Phe Met His Trp Gln Glu Glu Leu Leu Leu Gly Gly Met Ala Arg290 295 300Asp Pro Gln Gly Glu Leu Leu Arg Ala Glu Ala Leu Gln Ser Thr Phe305 310 315 320Leu Leu Met Ser Pro Arg Gln Leu Tyr Glu His Phe Arg Gly Asp Tyr325 330 335Gln Thr His Asp Ile Gly Trp Ser Glu Glu Gln Ala Ser Thr Val Leu340 345 350Gln Ala Trp Gln Arg Arg Phe Val Gln Leu Ala Gln Glu Ala Leu Pro355 360 365Glu Ash Ala Ser Gln Gln Ile His Ala Phe Ser Ser Thr Thr Leu Asp370 375 380Asp Ile Leu His Ala Phe Ser Glu Val Ser Ala Ala Arg Val Val Gly385 390 395 400
Untitled[1][1][1].ST25痣樣基底細胞癌症候群致病基因及其編碼蛋白Gly Tyr Leu Leu Met Leu Ala Tyr Ala Cys Val Thr Met Leu Arg Trp405 410 415Asp Cys Ala Gln Ser Gln Gly Ser Val Gly Leu Ala Gly Val Leu Leu420 425 430Val Ala Leu Ala Val Ala Ser Gly Leu Gly Leu Cys Ala Leu Leu Gly435 440 445Ile Thr Phe Asn Ala Ala Thr Thr Gln Val Leu Pro Phe Leu Ala Leu450 455 460Gly Ile Gly Val Asp Asp Val Phe Leu Leu Ala His Ala Phe Thr Glu465 470 475 480Ala Leu Pro Gly Thr Pro Leu Gln Glu Arg Met Gly Glu Cys Leu Gln485 490 495Arg Thr Gly Thr Ser Val Val Leu Thr Ser Ile Asn Asn Met Ala Ala500 505 510Phe Leu Met Ala Ala Leu Val Pro Ile Pro Ala Leu Arg Ala Phe Ser515 520 525Leu Gln Ala Ala Ile Val Val Gly Cys Thr Phe Val Ala Val Met Leu530 535 540Val Phe Pro Ala Ile Leu Ser Leu Asp Leu Arg Arg Arg His Cys Gln545 550 555 560Arg Leu Asp Val Leu Cys Cys Phe Ser Ser Pro Cys Ser Ala Gln Val565 570 575Ile Gln Ile Leu Pro Gln Glu Leu Gly Asp Gly Thr Val Pro Val Gly580 585 590Ile Ala His Leu Thr Ala Thr Val Gln Ala Phe Thr His Cys Glu Ala595 600 605Ser Ser Gln His Val Val Thr Ile Leu Pro Pro Gln Ala His Leu Val610 615 620Pro Pro Pro Ser Asp Pro Leu Gly Ser Glu Leu Phe Ser Pro Gly Gly625 630 635 640Ser Thr Arg Asp Leu Leu Gly Gln Glu Glu Glu Thr Arg Gln Lys Ala645 650 655Ala Cys Lys Ser Leu Pro Cys Ala Arg Trp Asn Leu Ala His Phe Ala660 665 670Arg Tyr Gln Phe Ala Pro Leu Leu Leu Gln Ser His Ala Lys Ala Ile675 680 685Val Leu Val Leu Phe Gly Ala Leu Leu Gly Leu Ser Leu Tyr Gly Ala
權利要求
1.痣樣基底細胞癌症候群致病基因，該基因的核苷酸序列如SEQ IDNO1所示，或SEQ ID NO1的同源序列，或SEQ ID NO1的變構體。
2.如權利要求1所述的痣樣基底細胞癌症候群致病基因，其中SEQID NO1的變構體如SEQ ID NO5，SEQ ID NO9，或SEQ ID NO13所示。
3.痣樣基底細胞癌症候群致病基因編碼的蛋白質，其胺基酸序列如SEQ ID NO2，SEQ ID NO6，SEQ ID NO10，或SEQ ID NO14所示。
4.突變的痣樣基底細胞癌症候群致病基因，該基因的核苷酸序列如SEQ ID NO3所示，或SEQ ID NO3的同源序列，或SEQ ID NO3的變構體。
5.如權利要求4所述的突變的痣樣基底細胞癌症候群致病基因，其中SEQ ID NO3的變構體如SEQ ID NO7，SEQ ID NO11，或SEQ ID NO15所示。
6.突變的痣樣基底細胞癌症候群(NBCCS)致病基因編碼的蛋白，其胺基酸序列如SEQ ID NO4，SEQ ID NO8，SEQ ID NO12或SEQ ID NO16所示。
7.一種體外檢測痣樣基底細胞癌症候群致病基因突變的方法，該方法包括A針對痣樣基底細胞癌症候群致病基因設計引物，進行PCR擴增；B對所述PCR產物進行分析；C鑑定痣樣基底細胞癌症候群致病基因編碼區2156G/A位點是否為G。
8.如權利要求7所述的體外檢測痣樣基底細胞癌症候群致病基因突變的方法，其中採用聚合酶鏈反應與直接測序法的結合，或者採用針對突變位點設計的寡核苷酸探針，或者採用PCR與限制性片段長度多態方法的結合。
9.檢測痣樣基底細胞癌症候群致病基因突變的試劑盒，該試劑盒包括A用於擴增痣樣基底細胞癌症候群致病基因的引物；BPCR擴增酶和相應緩衝液；C檢測該基因15號外顯子突變的試劑。
10.用於檢測痣樣基底細胞癌症候群致病基因突變的探針，該探針含有與SEQ ID No1或SEQ ID No3的部分核苷酸序列互補的核苷酸序列，所述部分核苷酸序列是一種至少包括編碼區第2156位鹼基，並且具有至少15到300個鹼基的DNA片段。
11.針對痣樣基底細胞癌症候群(NBCCS)致病基因或其突變基因編碼的蛋白的抗體。
全文摘要
本發明涉及一種痣樣基底細胞癌症候群(NBCCS)致病基因和該基因編碼蛋白質分子的序列。本發明還涉及痣樣基底細胞癌症候群致病基因檢測方法和檢測試劑盒。
文檔編號C07K14/435GK1920013SQ20061000316
公開日2007年2月28日 申請日期2006年2月20日 優先權日2006年2月20日
發明者王松靈, 李靜遠, 範志朋, 沈巖, 杜娟, 王存玉, 張春梅 申請人:首都醫科大學附屬北京口腔醫院, 北京諾賽基因組研究中心有限公司