Home > Mutations Untitled Document The mutations reported for Factor I are listed below: Factor I has three chains - Alpha, Beta and GammaAlpha chain Click on the highlighted residues for further information on mutation. MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQLQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTKEVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFSVYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQRGSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSHNNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENGVVWVSFRGADYSLRAVRMKIRPLVTQ Missense Position* Wild type Mutant Domain PMID 28LeuPro 1270664430GluGly 790317031GlyVal 1191465732GlyGlu 2111207635ArgCys 20829681, 20510102, 1992398235ArgHis 20829681, 20510102, 1992398235ArgSer 1992398236GlyVal 825953738ArgGly 11204560, 1060595539ValAsp 867565664CysPhe 1867616370MetArg 17531448125AsnAsp 19718467160ArgSer 1634621262GluAsp 19417632331ThrAla 20010469347GlnPro 16735602453SerAsn 1675636458ArgCys 18485090496AspAsn 17849064513HisPro 19572065515AspAsn 17849064545GluVal 19109585, 18500534, 10825402, 15523923551SerCys 10959699557ThrLys 19073821559GluVal 19073821571ProHis 19073821573 Arg Leu 10036586, 9818055, 8097946573ArgCys 8473507573ArgLeu 10036586, 9818055, 8097946 Insertion Mutation Codon Exon/Intron Domain PMID 34insC Exon 1 10891444 117-bp insertion 12871327 Deletion Mutation Codon Exon/Intron Domain PMID 1215delT Exon 3, Exon 4 17531448 delTCTT Exon 1 10602365 C1537delA 494 Exon 5 19572064 4110delA 17179831 IVS3+1_+4delGTAA Intron 3 12406899 1215delT Exon 3, Exon 4 11739173, 17531448 3121delAA Exon 4 10891444 4329delC Exon 5 10891444 4904delG 524 8639778 4758-4770del 8611457 65682-69828del Exon 1 17393016 1787-1789del3ins12 Exon 1 17393016 3120-3122delAA 140 Exon 4 12695755 1846 del A exon 5 21245743 Nonsense Mutation* Codon Exon/Intron Domain PMID Gly32X Exon 2 11739173 Ser119X Exon 3 11739173 Arg129X Exon 4 11739173 Gln150X Exon 4 15946522 Arg168X Exon 4 11739173, 10887149 Arg178X 19468208 Gln240X 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Trp248X 17393016 Gly316X Exon 5 10891444 Trp334X Exon 5 18388508 Trp334X Exon 5 10891444 Gln347X 14615374 Lys480X 1391954 Ser485X 16406498 Glu486X 15166913 Polymorphism Mutation* Codon Exon/Intron Domain PMID Thr331Ala 17433418, 10318664 Splice site Mutation Codon Exon/Intron Domain PMID 3200+1G>T 17179831 IVS4+1G>T Intron 4 14615374, 12406899, 11460507 IVS1+3A>G Intron 1 12406899 IVS3+1_+4delGTAA Intron 3 12406899 Beta chain Click on the highlighted residues for further information on mutation. MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSARGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ Missense Position* Wild type Mutant Domain PMID 44ArgCys 1565641, 1069576545GlyCys 2018836, 749397571TyrAsn 2130178874ArgCys 156564198AlaThr 1634610, 11434947178LysAsn 12573244190AsnSer 10572095196ArgCys 11468164265ProLeuFibrinogen C-terminal10688828267ArgSerFibrinogen C-terminal20640913285ArgHisFibrinogen C-terminal12573244294ArgGlyFibrinogen C-terminal16953282346AspTyrFibrinogen C-terminal11307813356TyrCysFibrinogen C-terminal17849064377GlyArgFibrinogen C-terminal16403286381AsnLysFibrinogen C-terminal20640913383LeuArgFibrinogen C-terminal10666208430GlyAspFibrinogen C-terminal10666208444GlySerFibrinogen C-terminal12893758, 15197468449GlyValFibrinogen C-terminal16732370464GlyAspFibrinogen C-terminal16670068467TrpGlyFibrinogen C-terminal14559115 Deletion Mutation Codon Exon/Intron Domain PMID 2397-247del Exon 2 3156856 7972delG 15946523 Nonsense Mutation* Codon Exon/Intron Domain PMID Arg17X Exon 2 16403286, 12161363 Trp47X Exon 2 12893758 Tyr71X 14629469 Tyr266X Fibrinogen C-terminal 12871327 Trp296X Fibrinogen C-terminal 17393016 Trp467X Fibrinogen C-terminal 12511408 Trp470X Fibrinogen C-terminal 12353071 Polymorphism Mutation* Codon Exon/Intron Domain PMID G/A-455 10378457, 9409270 C/T-148 413 10378457 G/A+448 10378457 G/A-854 19954614 C/T-249 19954614 G455A 20051843, 19906129, 19395327 Splice site Mutation Codon Exon/Intron Domain PMID IVS6+13C>T Intron 6 12393540 IVS7+1G>T Intron 7 12393540 IVS6Delta4b 20580695 Gamma chain Click on the highlighted residues for further information on mutation. MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEGFGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL Missense Position* Wild type Mutant Domain PMID 108AlaGly 19300242, 15795540, 11019970179CysArgFibrinogen C-terminal10590057, 15197468191GlyArgFibrinogen C-terminal11435303226GlyValFibrinogen C-terminal17650452241TrpAlaFibrinogen C-terminal11460501253TrpCysFibrinogen C-terminal16141000253TrpGlyFibrinogen C-terminal17080227256AsnAspFibrinogen C-terminal20580674265GlnHisFibrinogen C-terminal15748264288TyrCysFibrinogen C-terminal18485115289AlaValFibrinogen C-terminal15583736294GlyGluFibrinogen C-terminal8639838301ArgSerFibrinogen C-terminal10404772305AlaAspFibrinogen C-terminal10691848306TyrCysFibrinogen C-terminal10702704, 9576177309GlyAspFibrinogen C-terminal11986213310GlyArgFibrinogen C-terminal10880389, 15197468315AlaValFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 318GlyValFibrinogen C-terminal2257302, 10064005333HisTyrFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 334AsnIleFibrinogen C-terminal2328317334AsnLysFibrinogen C-terminal2328317335GlyAspFibrinogen C-terminal11986213336MetIleFibrinogen C-terminal12669117336MetThrFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 339SerArgFibrinogen C-terminal20126833339SerAsnFibrinogen C-terminal20829681, 20510102, 19923982, 20860169340ThrProFibrinogen C-terminal20666993344AspTyrFibrinogen C-terminal10613648344AspValFibrinogen C-terminal18832913345AsnAspFibrinogen C-terminal12669117345AsnSerFibrinogen C-terminal18676163, 16363237351AsnIleFibrinogen C-terminal19404553352CysSerFibrinogen C-terminal14996011352CysTyrFibrinogen C-terminal15735819, 16363258, 12669117353AlaThrFibrinogen C-terminal15070682355GlnArgFibrinogen C-terminal2738036356AspTyrFibrinogen C-terminal2819242356AspValFibrinogen C-terminal3708159358SerCysFibrinogen C-terminal8080993361TrpArgFibrinogen C-terminal20838743362MetIleFibrinogen C-terminal20860169363AsnLysFibrinogen C-terminal8400260367AlaAspFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 367AlaThrFibrinogen C-terminal17849064367AlaValFibrinogen C-terminal18000621371AsnAspFibrinogen C-terminal20860169371AsnSerFibrinogen C-terminal18676163375AlaThrFibrinogen C-terminal19923982377GlySerFibrinogen C-terminal17938819, 17331136378GlyCysFibrinogen C-terminal21057694379ThrProFibrinogen C-terminal21057694380TyrCysFibrinogen C-terminal12669117384SerCysFibrinogen C-terminal8080993387AsnLysFibrinogen C-terminal12695754389TyrAsnFibrinogen C-terminal19718467390AspHisFibrinogen C-terminal8822581397ThrIleFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 399AsnThrFibrinogen C-terminal20589319401ArgGlyFibrinogen C-terminal1733971401ArgTrpFibrinogen C-terminal16819336, 16615976, 12198657, 15197468404SerProFibrinogen C-terminal15632207406LysAsnFibrinogen C-terminal9401066437$ValIle 18521501 Deletion Mutation Codon Exon/Intron Domain PMID 319-320del 11460499 6bp deletion 319-320 Exon 8 2071611 7690-7704del Exon 8 17883696 4209delA Exon 5 12161363 4220delT Exon 5 12161363 318-319del 19923982 Nonsense Mutation* Codon Exon/Intron Domain PMID Arg134X 15284111 Glu257X Fibrinogen C-terminal 10928469 Lys111X exon4 20135062 Polymorphism Mutation* Codon Exon/Intron Domain PMID Ile144Lys 15946523 Splice site Mutation Codon Exon/Intron Domain PMID IVS6-320A>T 19551918 IVS-3+G>A 11001903 1876+5G>A Intron 1 11001902 IVS3-2G 20580695 * The positions are based on the protein sequence inclusive of the signal peptide if present. $ The amino acid position corresponds to Isoform of factor 1 gamma chain.
Home > Mutations
The mutations reported for Factor I are listed below:
Factor I has three chains - Alpha, Beta and GammaAlpha chain Click on the highlighted residues for further information on mutation. MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQLQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTKEVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFSVYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQRGSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSHNNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENGVVWVSFRGADYSLRAVRMKIRPLVTQ Missense Position* Wild type Mutant Domain PMID 28LeuPro 1270664430GluGly 790317031GlyVal 1191465732GlyGlu 2111207635ArgCys 20829681, 20510102, 1992398235ArgHis 20829681, 20510102, 1992398235ArgSer 1992398236GlyVal 825953738ArgGly 11204560, 1060595539ValAsp 867565664CysPhe 1867616370MetArg 17531448125AsnAsp 19718467160ArgSer 1634621262GluAsp 19417632331ThrAla 20010469347GlnPro 16735602453SerAsn 1675636458ArgCys 18485090496AspAsn 17849064513HisPro 19572065515AspAsn 17849064545GluVal 19109585, 18500534, 10825402, 15523923551SerCys 10959699557ThrLys 19073821559GluVal 19073821571ProHis 19073821573 Arg Leu 10036586, 9818055, 8097946573ArgCys 8473507573ArgLeu 10036586, 9818055, 8097946 Insertion Mutation Codon Exon/Intron Domain PMID 34insC Exon 1 10891444 117-bp insertion 12871327 Deletion Mutation Codon Exon/Intron Domain PMID 1215delT Exon 3, Exon 4 17531448 delTCTT Exon 1 10602365 C1537delA 494 Exon 5 19572064 4110delA 17179831 IVS3+1_+4delGTAA Intron 3 12406899 1215delT Exon 3, Exon 4 11739173, 17531448 3121delAA Exon 4 10891444 4329delC Exon 5 10891444 4904delG 524 8639778 4758-4770del 8611457 65682-69828del Exon 1 17393016 1787-1789del3ins12 Exon 1 17393016 3120-3122delAA 140 Exon 4 12695755 1846 del A exon 5 21245743 Nonsense Mutation* Codon Exon/Intron Domain PMID Gly32X Exon 2 11739173 Ser119X Exon 3 11739173 Arg129X Exon 4 11739173 Gln150X Exon 4 15946522 Arg168X Exon 4 11739173, 10887149 Arg178X 19468208 Gln240X 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, Trp248X 17393016 Gly316X Exon 5 10891444 Trp334X Exon 5 18388508 Trp334X Exon 5 10891444 Gln347X 14615374 Lys480X 1391954 Ser485X 16406498 Glu486X 15166913 Polymorphism Mutation* Codon Exon/Intron Domain PMID Thr331Ala 17433418, 10318664 Splice site Mutation Codon Exon/Intron Domain PMID 3200+1G>T 17179831 IVS4+1G>T Intron 4 14615374, 12406899, 11460507 IVS1+3A>G Intron 1 12406899 IVS3+1_+4delGTAA Intron 3 12406899 Beta chain Click on the highlighted residues for further information on mutation. MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSARGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ Missense Position* Wild type Mutant Domain PMID 44ArgCys 1565641, 1069576545GlyCys 2018836, 749397571TyrAsn 2130178874ArgCys 156564198AlaThr 1634610, 11434947178LysAsn 12573244190AsnSer 10572095196ArgCys 11468164265ProLeuFibrinogen C-terminal10688828267ArgSerFibrinogen C-terminal20640913285ArgHisFibrinogen C-terminal12573244294ArgGlyFibrinogen C-terminal16953282346AspTyrFibrinogen C-terminal11307813356TyrCysFibrinogen C-terminal17849064377GlyArgFibrinogen C-terminal16403286381AsnLysFibrinogen C-terminal20640913383LeuArgFibrinogen C-terminal10666208430GlyAspFibrinogen C-terminal10666208444GlySerFibrinogen C-terminal12893758, 15197468449GlyValFibrinogen C-terminal16732370464GlyAspFibrinogen C-terminal16670068467TrpGlyFibrinogen C-terminal14559115 Deletion Mutation Codon Exon/Intron Domain PMID 2397-247del Exon 2 3156856 7972delG 15946523 Nonsense Mutation* Codon Exon/Intron Domain PMID Arg17X Exon 2 16403286, 12161363 Trp47X Exon 2 12893758 Tyr71X 14629469 Tyr266X Fibrinogen C-terminal 12871327 Trp296X Fibrinogen C-terminal 17393016 Trp467X Fibrinogen C-terminal 12511408 Trp470X Fibrinogen C-terminal 12353071 Polymorphism Mutation* Codon Exon/Intron Domain PMID G/A-455 10378457, 9409270 C/T-148 413 10378457 G/A+448 10378457 G/A-854 19954614 C/T-249 19954614 G455A 20051843, 19906129, 19395327 Splice site Mutation Codon Exon/Intron Domain PMID IVS6+13C>T Intron 6 12393540 IVS7+1G>T Intron 7 12393540 IVS6Delta4b 20580695 Gamma chain Click on the highlighted residues for further information on mutation. MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEGFGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL Missense Position* Wild type Mutant Domain PMID 108AlaGly 19300242, 15795540, 11019970179CysArgFibrinogen C-terminal10590057, 15197468191GlyArgFibrinogen C-terminal11435303226GlyValFibrinogen C-terminal17650452241TrpAlaFibrinogen C-terminal11460501253TrpCysFibrinogen C-terminal16141000253TrpGlyFibrinogen C-terminal17080227256AsnAspFibrinogen C-terminal20580674265GlnHisFibrinogen C-terminal15748264288TyrCysFibrinogen C-terminal18485115289AlaValFibrinogen C-terminal15583736294GlyGluFibrinogen C-terminal8639838301ArgSerFibrinogen C-terminal10404772305AlaAspFibrinogen C-terminal10691848306TyrCysFibrinogen C-terminal10702704, 9576177309GlyAspFibrinogen C-terminal11986213310GlyArgFibrinogen C-terminal10880389, 15197468315AlaValFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 318GlyValFibrinogen C-terminal2257302, 10064005333HisTyrFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 334AsnIleFibrinogen C-terminal2328317334AsnLysFibrinogen C-terminal2328317335GlyAspFibrinogen C-terminal11986213336MetIleFibrinogen C-terminal12669117336MetThrFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 339SerArgFibrinogen C-terminal20126833339SerAsnFibrinogen C-terminal20829681, 20510102, 19923982, 20860169340ThrProFibrinogen C-terminal20666993344AspTyrFibrinogen C-terminal10613648344AspValFibrinogen C-terminal18832913345AsnAspFibrinogen C-terminal12669117345AsnSerFibrinogen C-terminal18676163, 16363237351AsnIleFibrinogen C-terminal19404553352CysSerFibrinogen C-terminal14996011352CysTyrFibrinogen C-terminal15735819, 16363258, 12669117353AlaThrFibrinogen C-terminal15070682355GlnArgFibrinogen C-terminal2738036356AspTyrFibrinogen C-terminal2819242356AspValFibrinogen C-terminal3708159358SerCysFibrinogen C-terminal8080993361TrpArgFibrinogen C-terminal20838743362MetIleFibrinogen C-terminal20860169363AsnLysFibrinogen C-terminal8400260367AlaAspFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 367AlaThrFibrinogen C-terminal17849064367AlaValFibrinogen C-terminal18000621371AsnAspFibrinogen C-terminal20860169371AsnSerFibrinogen C-terminal18676163375AlaThrFibrinogen C-terminal19923982377GlySerFibrinogen C-terminal17938819, 17331136378GlyCysFibrinogen C-terminal21057694379ThrProFibrinogen C-terminal21057694380TyrCysFibrinogen C-terminal12669117384SerCysFibrinogen C-terminal8080993387AsnLysFibrinogen C-terminal12695754389TyrAsnFibrinogen C-terminal19718467390AspHisFibrinogen C-terminal8822581397ThrIleFibrinogen C-terminal20829681, 20510102, 19923982, 20860169, 399AsnThrFibrinogen C-terminal20589319401ArgGlyFibrinogen C-terminal1733971401ArgTrpFibrinogen C-terminal16819336, 16615976, 12198657, 15197468404SerProFibrinogen C-terminal15632207406LysAsnFibrinogen C-terminal9401066437$ValIle 18521501 Deletion Mutation Codon Exon/Intron Domain PMID 319-320del 11460499 6bp deletion 319-320 Exon 8 2071611 7690-7704del Exon 8 17883696 4209delA Exon 5 12161363 4220delT Exon 5 12161363 318-319del 19923982 Nonsense Mutation* Codon Exon/Intron Domain PMID Arg134X 15284111 Glu257X Fibrinogen C-terminal 10928469 Lys111X exon4 20135062 Polymorphism Mutation* Codon Exon/Intron Domain PMID Ile144Lys 15946523 Splice site Mutation Codon Exon/Intron Domain PMID IVS6-320A>T 19551918 IVS-3+G>A 11001903 1876+5G>A Intron 1 11001902 IVS3-2G 20580695 * The positions are based on the protein sequence inclusive of the signal peptide if present. $ The amino acid position corresponds to Isoform of factor 1 gamma chain.
Factor I has three chains - Alpha, Beta and Gamma
Click on the highlighted residues for further information on mutation.
MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDWNYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSANNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSCRGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQLQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSSGPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTWNPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNVSPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTKEVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEFVSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKSYKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFSVYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQRGSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSHNNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENGVVWVSFRGADYSLRAVRMKIRPLVTQ
Missense
Insertion
Deletion
Nonsense
Polymorphism
Splice site
MKRMVSWSFHKLKTMKHLLLLLLCVFLVKSQGVNDNEEGFFSARGHRPLDKKREEAPSLRPAPPPISGGGYRARPAKAAATQKKVERKAPDAGGCLHADPDLGVLCPTGCQLQEALLQQERPIRNSVDELNNNVEAVSQTSSSSFQYMYLLKDLWQKRQKQVKDNENVVNEYSSELEKHQLYIDETVNSNIPTNLRVLRSILENLRSKIQKLESDVSAQMEYCRTPCTVSCNIPVVSGKECEEIIRKGGETSEMYLIQPDSSVKPYRVYCDMNTENGGWTVIQNRQDGSVDFGRKWDPYKQGFGNVATNTDGKNYCGLPGEYWLGNDKISQLTRMGPTELLIEMEDWKGDKVKAHYGGFTVQNEANKYQISVNKYRGTAGNALMDGASQLMGENRTMTIHNGMFFSTYDRDNDGWLTSDPRKQCSKEDGGGWWYNRCHAANPNGRYYWGGQYTWDMAKHGTDDGVVWMNWKGSWYSMRKMSMKIRPFFPQQ
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEGFGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL
* The positions are based on the protein sequence inclusive of the signal peptide if present.
$ The amino acid position corresponds to Isoform of factor 1 gamma chain.
©Biomedical Informatics Centre, NIRRH, Mumbai