Home > Mutations Untitled Document The mutations reported from Factor XI are listed below: Click on the highlighted residues for further information on mutation. MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV Missense Position* Wild type Mutant Domain PMID 34AspHisApple 1788867238ValAlaApple 11802437441ProGlnApple 11683590141ProLeuApple 11607912442SerArgApple 11965287946CysPheApple 11595301147GlnHisApple 1 51ThrIleApple 11800515151ThrProApple 11800515153HisTyrApple 11965287956CysArgApple 119598070, 18387979, 1189577856CysTrpApple 1 66ProLeuApple 11039120970ProLeuApple 1 75 ThrIle Apple 11824841176CysArgApple 11683590176CysPheApple 11683590176CysTyrApple 11802437487ProThrApple 11607912497GlyAlaApple 11883943899SerTyrApple 119652879101LysArgApple 115953011109AlaThr 18515884110CysGlyApple 216079124120MetThrApple 216835901, 17549289122GlyAspApple 212716376136CysArgApple 220491955140CysTyrApple 218515884, 16607084141ThrMetApple 218515884145HisArgApple 2 150ThrMetApple 216835901, 19652879151TyrCysApple 215953011151TyrSerApple 217549289, 16835901152AlaProApple 2 162ArgCysApple 2 173GlyGluApple 219652879190LeuProApple 215182578199AlaVal 18388506200CysTyrApple 318446632202ArgGlyApple 319630775, 18327400206ProSerApple 316607084216AspAsnApple 3 230CysArgApple 3 230CysSerApple 3 239PheSerApple 316787881241PheLeuApple 321457405243SerPheApple 315728123244GlnArgApple 39787168246TrpCysApple 310027710252ArgIleApple 3 252ArgLysApple 318446632252ArgSerApple 3 255CysTyrApple 318024374, 11895778261GluAspApple 316079124263GlyGluApple 315953011266SerAsnApple 311418471266SerAspApple 319630775266SerGlnApple 39787168268ArgCysApple 3 268ArgHisApple 310630991, 18446632270LysIleApple 318839438, 15180874289ValLeu 15842381301PheLeuApple 41547342, 15026311, 19630775302LeuAlaApple 418441012305GluAlaApple 418441012308IleAlaApple 418441012308IlePheApple 410391209308IleThrApple 415953011315GluLysApple 418024374320LeuProApple 47888672322ThrIleApple 47888672325ValPheApple 419652879326ArgCysApple 410606881, 19652879331ThrIleApple 418005151339CysPheApple 411895778339CysSerApple 418441012341GluLysApple 418024374, 19652879, 7888672347TyrAlaApple 418441012349LysAlaApple 418441012354GlyArgApple 414717969359IleMetApple 419652879361HisAlaApple 418441012362GlyArgApple 4 368GlyAlaApple 419652879, 14717969368GlyArgApple 4 368GlyGluApple 415026311, 18839438369TyrSerApple 415026311, 15842381373LeuSerApple 419652879374CysArgApple 419652879389ValIlePeptidase S119630775, 17971173390GlyAlaPeptidase S118758779393AlaValPeptidase S119652879396ArgCysPeptidase S120829681, 20510102, 19923982, 20860169, 399TrpLeuPeptidase S1 400ProLeuPeptidase S1 403ValMetPeptidase S121457405404ThrAsnPeptidase S19401068406HisProPeptidase S118388506407ThrProPeptidase S1 408ThrProPeptidase S1 416CysTyrPeptidase S115728123, 19652879, 18024374418GlySerPeptidase S1 418GlyValPeptidase S117370644, 15026311419SerAlaPeptidase S1 425TrpCysPeptidase S118388506, 15026311428ThrIlePeptidase S119652879430AlaSerPeptidase S119652879430AlaThrPeptidase S118388506, 18839438430AlaValPeptidase S115634276443ArgCysPeptidase S1 445TyrCysPeptidase S118024374446SerGlyPeptidase S118446632451GlnGluPeptidase S117581330460PheValPeptidase S17669672478GlyArgPeptidase S112716376, 15842381493ThrIlePeptidase S115968392500CysArgPeptidase S119652879500CysTrpPeptidase S119652879503SerProPeptidase S118005151511TyrHisPeptidase S111895778515TrpCysPeptidase S116079124515TrpGlyPeptidase S120491955516ValMetPeptidase S118832909519TrpCysPeptidase S115060426536LysAsnPeptidase S111127865538ProLeuPeptidase S117229051, 19652879, 19630775545CysTyrPeptidase S118024374555GluGlyPeptidase S119630775562GlySerPeptidase S119652879565GluLysPeptidase S115953011, 18758779573GlyGluPeptidase S115090552, 15456490574AspGlyPeptidase S1 581CysPhePeptidase S1 587TrpSerPeptidase S115026311593ThrMetPeptidase S117549289, 19630775594SerArgPeptidase S115842381, 15634276596GlyCysPeptidase S118515884597GluLysPeptidase S116607084608TyrHisPeptidase S118005151617TrpArgPeptidase S115996948618IleSerPeptidase S115953011 Insertion Mutation Codon Exon/Intron Domain PMID 192_193insG Exon 12 Apple 1 14717969 ins[AT(A)(28)TAAAG(A)(26)GGAAATAATAATTCA] Exon 3 15566468 137insG 14717969 307insAAGCAAT Exon 13 11127865 501/502 Gins 17581330 Deletion Mutation Codon Exon/Intron Domain PMID delG 285 11895778 962delG Exon 9 Apple 4 15953011 73-86del Apple 1 18024374 78-80delGGA Apple 1 19718484 962delG 288 Exon 9 Apple 4 15953011 960-961delGT Exon 9 16607084 687_692delTCGACA Exon 7 16519703 IVS J-4delGTTG 15946525 643-648delATCGAC Exon 7 15531455 1072delA 11127865 14-bpdelAAGgtaacagagtg 554 Exon 14 / Iintron N 8807341 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln263X 21668437 Gln244X 21668437 Cys56X Apple 1 16905957 Arg72X Apple 1 16905957 Gln106X Linker Region 14717969 Gln134X Apple 2 18515884 Glu135X Apple 2 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys136X Apple 2 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys146X Exon 5 Apple 2 7669672, 15953011, 9326232 Arg228X Apple 3 14717969 Trp246X Apple 3 15182578 Gln281X Exon 8 Apple 3 19347998 Cys327X Apple 4 18515884 Tyr369X Exon 10 Apple 4 14508802 Trp401X Peptidase S1 12697122 Glu465X Exon 12 Peptidase S1 12879434 Trp519X Peptidase S1 11122101 Cys599X Peptidase S1 14717969 Tyr608X Exon 15 Peptidase S1 15953011 Polymorphism Mutation* Codon Exon/Intron Domain PMID Tyr35His Apple 1 19652879 Pro66Leu Apple 1 10391209 Asp143Asp Apple 2 11127865 Ile308Phe Apple 4 15953011 Arg396Cys Peptidase S1 17549289 Splice site Mutation Codon Exon/Intron Domain PMID IVS6+3A>G 11895778, 18327400 IVS2, 55+6T>G, +10insAG Apple 1 18839438 IVS3,218+2T>A Introgenic Region 18839438 325+1G>A Introgenic Region 16835901, 18446632 325G>A Exon 4 Apple 2 18327400 1026G>T 11127865 218+126A>G Introgenic Region 14717969 301_307dupAAGCAAT Apple 1 11127865 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Home > Mutations
The mutations reported from Factor XI are listed below:
Click on the highlighted residues for further information on mutation. MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV Missense Position* Wild type Mutant Domain PMID 34AspHisApple 1788867238ValAlaApple 11802437441ProGlnApple 11683590141ProLeuApple 11607912442SerArgApple 11965287946CysPheApple 11595301147GlnHisApple 1 51ThrIleApple 11800515151ThrProApple 11800515153HisTyrApple 11965287956CysArgApple 119598070, 18387979, 1189577856CysTrpApple 1 66ProLeuApple 11039120970ProLeuApple 1 75 ThrIle Apple 11824841176CysArgApple 11683590176CysPheApple 11683590176CysTyrApple 11802437487ProThrApple 11607912497GlyAlaApple 11883943899SerTyrApple 119652879101LysArgApple 115953011109AlaThr 18515884110CysGlyApple 216079124120MetThrApple 216835901, 17549289122GlyAspApple 212716376136CysArgApple 220491955140CysTyrApple 218515884, 16607084141ThrMetApple 218515884145HisArgApple 2 150ThrMetApple 216835901, 19652879151TyrCysApple 215953011151TyrSerApple 217549289, 16835901152AlaProApple 2 162ArgCysApple 2 173GlyGluApple 219652879190LeuProApple 215182578199AlaVal 18388506200CysTyrApple 318446632202ArgGlyApple 319630775, 18327400206ProSerApple 316607084216AspAsnApple 3 230CysArgApple 3 230CysSerApple 3 239PheSerApple 316787881241PheLeuApple 321457405243SerPheApple 315728123244GlnArgApple 39787168246TrpCysApple 310027710252ArgIleApple 3 252ArgLysApple 318446632252ArgSerApple 3 255CysTyrApple 318024374, 11895778261GluAspApple 316079124263GlyGluApple 315953011266SerAsnApple 311418471266SerAspApple 319630775266SerGlnApple 39787168268ArgCysApple 3 268ArgHisApple 310630991, 18446632270LysIleApple 318839438, 15180874289ValLeu 15842381301PheLeuApple 41547342, 15026311, 19630775302LeuAlaApple 418441012305GluAlaApple 418441012308IleAlaApple 418441012308IlePheApple 410391209308IleThrApple 415953011315GluLysApple 418024374320LeuProApple 47888672322ThrIleApple 47888672325ValPheApple 419652879326ArgCysApple 410606881, 19652879331ThrIleApple 418005151339CysPheApple 411895778339CysSerApple 418441012341GluLysApple 418024374, 19652879, 7888672347TyrAlaApple 418441012349LysAlaApple 418441012354GlyArgApple 414717969359IleMetApple 419652879361HisAlaApple 418441012362GlyArgApple 4 368GlyAlaApple 419652879, 14717969368GlyArgApple 4 368GlyGluApple 415026311, 18839438369TyrSerApple 415026311, 15842381373LeuSerApple 419652879374CysArgApple 419652879389ValIlePeptidase S119630775, 17971173390GlyAlaPeptidase S118758779393AlaValPeptidase S119652879396ArgCysPeptidase S120829681, 20510102, 19923982, 20860169, 399TrpLeuPeptidase S1 400ProLeuPeptidase S1 403ValMetPeptidase S121457405404ThrAsnPeptidase S19401068406HisProPeptidase S118388506407ThrProPeptidase S1 408ThrProPeptidase S1 416CysTyrPeptidase S115728123, 19652879, 18024374418GlySerPeptidase S1 418GlyValPeptidase S117370644, 15026311419SerAlaPeptidase S1 425TrpCysPeptidase S118388506, 15026311428ThrIlePeptidase S119652879430AlaSerPeptidase S119652879430AlaThrPeptidase S118388506, 18839438430AlaValPeptidase S115634276443ArgCysPeptidase S1 445TyrCysPeptidase S118024374446SerGlyPeptidase S118446632451GlnGluPeptidase S117581330460PheValPeptidase S17669672478GlyArgPeptidase S112716376, 15842381493ThrIlePeptidase S115968392500CysArgPeptidase S119652879500CysTrpPeptidase S119652879503SerProPeptidase S118005151511TyrHisPeptidase S111895778515TrpCysPeptidase S116079124515TrpGlyPeptidase S120491955516ValMetPeptidase S118832909519TrpCysPeptidase S115060426536LysAsnPeptidase S111127865538ProLeuPeptidase S117229051, 19652879, 19630775545CysTyrPeptidase S118024374555GluGlyPeptidase S119630775562GlySerPeptidase S119652879565GluLysPeptidase S115953011, 18758779573GlyGluPeptidase S115090552, 15456490574AspGlyPeptidase S1 581CysPhePeptidase S1 587TrpSerPeptidase S115026311593ThrMetPeptidase S117549289, 19630775594SerArgPeptidase S115842381, 15634276596GlyCysPeptidase S118515884597GluLysPeptidase S116607084608TyrHisPeptidase S118005151617TrpArgPeptidase S115996948618IleSerPeptidase S115953011 Insertion Mutation Codon Exon/Intron Domain PMID 192_193insG Exon 12 Apple 1 14717969 ins[AT(A)(28)TAAAG(A)(26)GGAAATAATAATTCA] Exon 3 15566468 137insG 14717969 307insAAGCAAT Exon 13 11127865 501/502 Gins 17581330 Deletion Mutation Codon Exon/Intron Domain PMID delG 285 11895778 962delG Exon 9 Apple 4 15953011 73-86del Apple 1 18024374 78-80delGGA Apple 1 19718484 962delG 288 Exon 9 Apple 4 15953011 960-961delGT Exon 9 16607084 687_692delTCGACA Exon 7 16519703 IVS J-4delGTTG 15946525 643-648delATCGAC Exon 7 15531455 1072delA 11127865 14-bpdelAAGgtaacagagtg 554 Exon 14 / Iintron N 8807341 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln263X 21668437 Gln244X 21668437 Cys56X Apple 1 16905957 Arg72X Apple 1 16905957 Gln106X Linker Region 14717969 Gln134X Apple 2 18515884 Glu135X Apple 2 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys136X Apple 2 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys146X Exon 5 Apple 2 7669672, 15953011, 9326232 Arg228X Apple 3 14717969 Trp246X Apple 3 15182578 Gln281X Exon 8 Apple 3 19347998 Cys327X Apple 4 18515884 Tyr369X Exon 10 Apple 4 14508802 Trp401X Peptidase S1 12697122 Glu465X Exon 12 Peptidase S1 12879434 Trp519X Peptidase S1 11122101 Cys599X Peptidase S1 14717969 Tyr608X Exon 15 Peptidase S1 15953011 Polymorphism Mutation* Codon Exon/Intron Domain PMID Tyr35His Apple 1 19652879 Pro66Leu Apple 1 10391209 Asp143Asp Apple 2 11127865 Ile308Phe Apple 4 15953011 Arg396Cys Peptidase S1 17549289 Splice site Mutation Codon Exon/Intron Domain PMID IVS6+3A>G 11895778, 18327400 IVS2, 55+6T>G, +10insAG Apple 1 18839438 IVS3,218+2T>A Introgenic Region 18839438 325+1G>A Introgenic Region 16835901, 18446632 325G>A Exon 4 Apple 2 18327400 1026G>T 11127865 218+126A>G Introgenic Region 14717969 301_307dupAAGCAAT Apple 1 11127865 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Click on the highlighted residues for further information on mutation.
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKDSVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLEHRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFTFFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGITSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV
Missense
Insertion
Deletion
Nonsense
Polymorphism
Splice site
* The positions are based on the protein sequence inclusive of the signal peptide if present.
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