Home > Mutations Untitled Document The mutations reported from Factor VII are listed below: Click on the highlighted residues for further information on mutation. MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP Missense Position* Wild type Mutant Domain PMID 64PheLeuGla10862079, 11092214, 1113923870ProGlnGla1151722173LeuGlnGla1131374375ArgGlyGla973299276GluLysGla1131374379GluGlnGla1112933282CysArgGla19751712, 17849063, 1545648983SerProGla1095969785GluLysGla1247258786GluGlnGla1247258788ArgGlyGla1131374389GluLysGla1566754192LysGluGla11517221101TrpCysGla12015065112SerAlaEGF-like 1; calcium-bindi18000603117AsnAspEGF-like 1; calcium-bindi9414278117AsnIleEGF-like 1; calcium-bindi11313743120SerAlaEGF-like 1; calcium-bindi18000603120SerProEGF-like 1; calcium-bindi11092214121CysPheEGF-like 1; calcium-bindi11129332125LeuProEGF-like 1; calcium-bindi11129332128TyrCysEGF-like 1; calcium-bindi11092214139ArgGlnEGF-like 1; calcium-bindi9732992, 7607584, 8242057139ArgTrpEGF-like 1; calcium-bindi8242057151CysArgEGF-like 218282149151CysSerEGF-like 211129332154GluLysEGF-like 211139238156GlySerEGF-like 211313743157GlyCysEGF-like 29949166, 8244334157GlySerEGF-like 210937801, 11129332157GlyValEGF-like 211129332160GlnArgEGF-like 212935978, 10627125, 9949166, 8242057162CysTyrEGF-like 211313743163SerGlyEGF-like 217692102170ArgCysEGF-like 215339682, 10937801170ArgSerEGF-like 215339682177GlyArgEGF-like 219751712, 15198740183AspTyrEGF-like 215339682194ProThr 9452082195CysArg 12632035, 10959697, 11313743197LysGlu 8242057198IleThr 19751712200IleSer 12695753205AsnGln 18000603212ArgGln 19751712, 8204879212ArgLeu 14633462214ValAlaPeptidase S112358603214ValGlyPeptidase S112358603216GlyAspPeptidase S111092214218ValAspPeptidase S112444984222GlyArgPeptidase S115194538238CysTyrPeptidase S18364544239GlyArgPeptidase S111313743240GlyArgPeptidase S111313743, 19432927241ThrAsnPeptidase S116620721250SerPhePeptidase S121372693251AlaGluPeptidase S117606459251AlaProPeptidase S119751712251AlaValPeptidase S117606459, 15907525, 11313743254CysTyrPeptidase S111139238264LeuProPeptidase S114691565266AlaThrPeptidase S111092214, 14691565283ArgTrpPeptidase S18844208284ArgGlnPeptidase S115907525, 12676783299ThrAlaPeptidase S115907525299ThrProPeptidase S115907525302AspAsnPeptidase S111129332302AspHisPeptidase S111129332304AlaGlyPeptidase S110554827304AlaPhePeptidase S110554827304AlaThrPeptidase S115456489304AlaValPeptidase S117287630, 10554827, 9452082, 8883260307ArgCysPeptidase S110959697, 11092214307ArgHisPeptidase S17974346312ValMetPeptidase S111092214314LeuValPeptidase S121206266320ProLeuPeptidase S121441234323LeuArgPeptidase S119751712325GluLysPeptidase S111092214, 8844208332ThrMetPeptidase S111129332337ArgCysPeptidase S110959697337ArgHisPeptidase S115456489341ValPhePeptidase S111092214342SerArgPeptidase S110959697343GlyAlaPeptidase S111830508343GlySerPeptidase S120829681, 20510102, 19923982, 20860169, 344TrpArgPeptidase S119751712345GlySerPeptidase S111139238350ArgAlaPeptidase S17918377350ArgHisPeptidase S114629487350ArgLysPeptidase S114629487354AlaValPeptidase S120829681, 20510102, 19923982, 20860169, 356GluValPeptidase S112444984358MetGlnPeptidase S115566361358MetIlePeptidase S112935978, 11092214, 8844208, 15907525, 11139238358MetValPeptidase S111139238360LeuProPeptidase S111139238, 15456489363ProArgPeptidase S111139238363ProThrPeptidase S115566361, 11260055, 10959697364ArgGlnPeptidase S120829681, 20510102, 19923982, 20860169, 364ArgGlyPeptidase S116363229364ArgTrpPeptidase S114629487, 8125953365LeuValPeptidase S115566361, 11389142366MetAspPeptidase S115566361366MetValPeptidase S116620721370CysPhePeptidase S119751712, 15970722, 15456489, 12695753, 8043443375ArgLysPeptidase S115590402375ArgTrpPeptidase S115590402382AsnGlnPeptidase S118000603384ThrMetPeptidase S119751712, 15194538387MetIlePeptidase S111313743388PheSerPeptidase S111313743, 8940045389CysArgPeptidase S19282796, 11091194389CysGlnPeptidase S110877552389CysGlyPeptidase S120829681, 20510102, 19923982, 20860169, 391GlyAlaPeptidase S111830508391GlyAspPeptidase S112695753, 8845469, 15735789391GlyPhePeptidase S115735789391GlySerPeptidase S115735789, 14688004, 11313743391GlyTrpPeptidase S115735789398AspGluPeptidase S119751712399SerCysPeptidase S114717781, 12181027399SerPhePeptidase S115970722402GlyArgPeptidase S18043443402GlyGluPeptidase S18844208403AspAsnPeptidase S111313743403AspHisPeptidase S111092214404SerAlaPeptidase S112358603408HisArgPeptidase S120829681, 20510102, 19923982, 20860169, 408HisGlnPeptidase S120829681, 20510102, 19923982, 20860169, 413ArgGlnPeptidase S112015065, 8043443413ArgProPeptidase S117849063414GlyArgPeptidase S114717781414GlyAspPeptidase S114717781414GlyCysPeptidase S114717781414GlyPhePeptidase S114717781414GlySerPeptidase S114717781419ThrMetPeptidase S119141116, 9308740, 8652821, 12697124422ValPhePeptidase S114521598423SerIlePeptidase S110959697424TrpCysPeptidase S117606459, 10959697424TrpPhePeptidase S110959697435GlyGluPeptidase S114521598439ArgGlyPeptidase S111313743445GluLysPeptidase S115741795 Insertion Mutation Codon Exon/Intron Domain PMID 11293insAA 12935978 7773-7781ins IVS4 11918550 323insCCTATATCCT 329 Exon 8 11260055 10553-10554ins Exon 8 Catalytic 11260055 Deletion Mutation Codon Exon/Intron Domain PMID 3892-3894del Exon 2 Gla 9729-9732del Intron 7 Catalytic 9716592 10554-10568del Exon 8 Catalytic 10862079 10586-10602del Exon 8 Catalytic 7981691 10696del Exon 8 Catalytic 1350022 10785del Exon 8 Catalytic 1350022 Phe24del Gla 15456489 10896-10913delATGTTCTGTGCCGGCTAC Exon 8 SP 15198740 7774-7780del IVS 4 11918550 delTC Exon 1A 11260055 27-28delCT 52-53 Exon 1a 11057862 10585del17bp 10959697 11125-11128delC Exon 8 Catalytic 7919338, 11092214, 10862079, 15456489 11487-11489delCCC Exon 8 14633462 del CT (5078 - 5079) exon1 21535950 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln426X Catalytic domain 21535950 Ser112X EGF1 12632035 Cys115X Exon 4 EGF1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys121X EGF1 11091194 Cys132X EGF1 15634284 Gln211X Exon 8 11529858 Arg212X Exon 6 15198740, 11092214 Gln227X Exon 8 Peptidase S1 17606459 Lys376X Peptidase S1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Gln382X Exon 8 Peptidase S1 17606459 Trp424X Peptidase S1 16706976 Arg462X 19822353, 19141116 Arg1978X 10980546 Polymorphism Mutation* Codon Exon/Intron Domain PMID G73A Intron 1a 10691850 His115His EGF1 14691565 115His Exon 5 EGF1 8364544, 8244334 Arg131Trp EGF1 16792912 330Ala Peptidase S1 8844208 333Ser Exon 8 Peptidase S1 8364544, 8244334 Arg413Gln Exon 8 Peptidase S1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Splice site Mutation Codon Exon/Intron Domain PMID IVS2+1 Intron 2 10862079, 10959697 IVS2+5 Intron 2 10862079 IVS3-1 Intron 3 10862079 IVS4+1 Intron 4 10862079, 12472587 IVS4+G>A 16651241 226-2 A>G Intron 2 15970722 IVS1a+5g>a Intron 1a 15968391 9726+5G>A 12881304, 9716592 IVS7+2T>G 12676783 T9726+2>G IVS 7 11918550 IVS46071G>A 11529858 IVS2+1G>C 11092214 IVS4+1G>A 11092214 IVS1a+5 Intron 1a 10959697 IVS6+1 Intron 6 10959697 IVS7+7 Intron 7 10959697, 11092214 9007+1G>T IVS6 11260055 IVS7+5 Intron 7 12358603 IVS6-1G?A intron6 21535950 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Home > Mutations
The mutations reported from Factor VII are listed below:
Click on the highlighted residues for further information on mutation. MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP Missense Position* Wild type Mutant Domain PMID 64PheLeuGla10862079, 11092214, 1113923870ProGlnGla1151722173LeuGlnGla1131374375ArgGlyGla973299276GluLysGla1131374379GluGlnGla1112933282CysArgGla19751712, 17849063, 1545648983SerProGla1095969785GluLysGla1247258786GluGlnGla1247258788ArgGlyGla1131374389GluLysGla1566754192LysGluGla11517221101TrpCysGla12015065112SerAlaEGF-like 1; calcium-bindi18000603117AsnAspEGF-like 1; calcium-bindi9414278117AsnIleEGF-like 1; calcium-bindi11313743120SerAlaEGF-like 1; calcium-bindi18000603120SerProEGF-like 1; calcium-bindi11092214121CysPheEGF-like 1; calcium-bindi11129332125LeuProEGF-like 1; calcium-bindi11129332128TyrCysEGF-like 1; calcium-bindi11092214139ArgGlnEGF-like 1; calcium-bindi9732992, 7607584, 8242057139ArgTrpEGF-like 1; calcium-bindi8242057151CysArgEGF-like 218282149151CysSerEGF-like 211129332154GluLysEGF-like 211139238156GlySerEGF-like 211313743157GlyCysEGF-like 29949166, 8244334157GlySerEGF-like 210937801, 11129332157GlyValEGF-like 211129332160GlnArgEGF-like 212935978, 10627125, 9949166, 8242057162CysTyrEGF-like 211313743163SerGlyEGF-like 217692102170ArgCysEGF-like 215339682, 10937801170ArgSerEGF-like 215339682177GlyArgEGF-like 219751712, 15198740183AspTyrEGF-like 215339682194ProThr 9452082195CysArg 12632035, 10959697, 11313743197LysGlu 8242057198IleThr 19751712200IleSer 12695753205AsnGln 18000603212ArgGln 19751712, 8204879212ArgLeu 14633462214ValAlaPeptidase S112358603214ValGlyPeptidase S112358603216GlyAspPeptidase S111092214218ValAspPeptidase S112444984222GlyArgPeptidase S115194538238CysTyrPeptidase S18364544239GlyArgPeptidase S111313743240GlyArgPeptidase S111313743, 19432927241ThrAsnPeptidase S116620721250SerPhePeptidase S121372693251AlaGluPeptidase S117606459251AlaProPeptidase S119751712251AlaValPeptidase S117606459, 15907525, 11313743254CysTyrPeptidase S111139238264LeuProPeptidase S114691565266AlaThrPeptidase S111092214, 14691565283ArgTrpPeptidase S18844208284ArgGlnPeptidase S115907525, 12676783299ThrAlaPeptidase S115907525299ThrProPeptidase S115907525302AspAsnPeptidase S111129332302AspHisPeptidase S111129332304AlaGlyPeptidase S110554827304AlaPhePeptidase S110554827304AlaThrPeptidase S115456489304AlaValPeptidase S117287630, 10554827, 9452082, 8883260307ArgCysPeptidase S110959697, 11092214307ArgHisPeptidase S17974346312ValMetPeptidase S111092214314LeuValPeptidase S121206266320ProLeuPeptidase S121441234323LeuArgPeptidase S119751712325GluLysPeptidase S111092214, 8844208332ThrMetPeptidase S111129332337ArgCysPeptidase S110959697337ArgHisPeptidase S115456489341ValPhePeptidase S111092214342SerArgPeptidase S110959697343GlyAlaPeptidase S111830508343GlySerPeptidase S120829681, 20510102, 19923982, 20860169, 344TrpArgPeptidase S119751712345GlySerPeptidase S111139238350ArgAlaPeptidase S17918377350ArgHisPeptidase S114629487350ArgLysPeptidase S114629487354AlaValPeptidase S120829681, 20510102, 19923982, 20860169, 356GluValPeptidase S112444984358MetGlnPeptidase S115566361358MetIlePeptidase S112935978, 11092214, 8844208, 15907525, 11139238358MetValPeptidase S111139238360LeuProPeptidase S111139238, 15456489363ProArgPeptidase S111139238363ProThrPeptidase S115566361, 11260055, 10959697364ArgGlnPeptidase S120829681, 20510102, 19923982, 20860169, 364ArgGlyPeptidase S116363229364ArgTrpPeptidase S114629487, 8125953365LeuValPeptidase S115566361, 11389142366MetAspPeptidase S115566361366MetValPeptidase S116620721370CysPhePeptidase S119751712, 15970722, 15456489, 12695753, 8043443375ArgLysPeptidase S115590402375ArgTrpPeptidase S115590402382AsnGlnPeptidase S118000603384ThrMetPeptidase S119751712, 15194538387MetIlePeptidase S111313743388PheSerPeptidase S111313743, 8940045389CysArgPeptidase S19282796, 11091194389CysGlnPeptidase S110877552389CysGlyPeptidase S120829681, 20510102, 19923982, 20860169, 391GlyAlaPeptidase S111830508391GlyAspPeptidase S112695753, 8845469, 15735789391GlyPhePeptidase S115735789391GlySerPeptidase S115735789, 14688004, 11313743391GlyTrpPeptidase S115735789398AspGluPeptidase S119751712399SerCysPeptidase S114717781, 12181027399SerPhePeptidase S115970722402GlyArgPeptidase S18043443402GlyGluPeptidase S18844208403AspAsnPeptidase S111313743403AspHisPeptidase S111092214404SerAlaPeptidase S112358603408HisArgPeptidase S120829681, 20510102, 19923982, 20860169, 408HisGlnPeptidase S120829681, 20510102, 19923982, 20860169, 413ArgGlnPeptidase S112015065, 8043443413ArgProPeptidase S117849063414GlyArgPeptidase S114717781414GlyAspPeptidase S114717781414GlyCysPeptidase S114717781414GlyPhePeptidase S114717781414GlySerPeptidase S114717781419ThrMetPeptidase S119141116, 9308740, 8652821, 12697124422ValPhePeptidase S114521598423SerIlePeptidase S110959697424TrpCysPeptidase S117606459, 10959697424TrpPhePeptidase S110959697435GlyGluPeptidase S114521598439ArgGlyPeptidase S111313743445GluLysPeptidase S115741795 Insertion Mutation Codon Exon/Intron Domain PMID 11293insAA 12935978 7773-7781ins IVS4 11918550 323insCCTATATCCT 329 Exon 8 11260055 10553-10554ins Exon 8 Catalytic 11260055 Deletion Mutation Codon Exon/Intron Domain PMID 3892-3894del Exon 2 Gla 9729-9732del Intron 7 Catalytic 9716592 10554-10568del Exon 8 Catalytic 10862079 10586-10602del Exon 8 Catalytic 7981691 10696del Exon 8 Catalytic 1350022 10785del Exon 8 Catalytic 1350022 Phe24del Gla 15456489 10896-10913delATGTTCTGTGCCGGCTAC Exon 8 SP 15198740 7774-7780del IVS 4 11918550 delTC Exon 1A 11260055 27-28delCT 52-53 Exon 1a 11057862 10585del17bp 10959697 11125-11128delC Exon 8 Catalytic 7919338, 11092214, 10862079, 15456489 11487-11489delCCC Exon 8 14633462 del CT (5078 - 5079) exon1 21535950 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln426X Catalytic domain 21535950 Ser112X EGF1 12632035 Cys115X Exon 4 EGF1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Cys121X EGF1 11091194 Cys132X EGF1 15634284 Gln211X Exon 8 11529858 Arg212X Exon 6 15198740, 11092214 Gln227X Exon 8 Peptidase S1 17606459 Lys376X Peptidase S1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Gln382X Exon 8 Peptidase S1 17606459 Trp424X Peptidase S1 16706976 Arg462X 19822353, 19141116 Arg1978X 10980546 Polymorphism Mutation* Codon Exon/Intron Domain PMID G73A Intron 1a 10691850 His115His EGF1 14691565 115His Exon 5 EGF1 8364544, 8244334 Arg131Trp EGF1 16792912 330Ala Peptidase S1 8844208 333Ser Exon 8 Peptidase S1 8364544, 8244334 Arg413Gln Exon 8 Peptidase S1 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Splice site Mutation Codon Exon/Intron Domain PMID IVS2+1 Intron 2 10862079, 10959697 IVS2+5 Intron 2 10862079 IVS3-1 Intron 3 10862079 IVS4+1 Intron 4 10862079, 12472587 IVS4+G>A 16651241 226-2 A>G Intron 2 15970722 IVS1a+5g>a Intron 1a 15968391 9726+5G>A 12881304, 9716592 IVS7+2T>G 12676783 T9726+2>G IVS 7 11918550 IVS46071G>A 11529858 IVS2+1G>C 11092214 IVS4+1G>A 11092214 IVS1a+5 Intron 1a 10959697 IVS6+1 Intron 6 10959697 IVS7+7 Intron 7 10959697, 11092214 9007+1G>T IVS6 11260055 IVS7+5 Intron 7 12358603 IVS6-1G?A intron6 21535950 * 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.
MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP
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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