Home > Mutations Untitled Document The mutations reported from Factor II are listed below: Click on the highlighted residues for further information on mutation. MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKYGFYTHVFRLKKWIQKVIDQFGE Missense Position* Wild type Mutant Domain PMID 4ArgGln 2169285459GluGlnGla14629473 87TyrCysGla7740448161AspTyrKringle 111154146165ThrMetKringle 115892853181CysTyrKringle 19134629200GluLys 6405779215TrpAlaKringle 219586901217GluAlaKringle 219586901263ArgCysKringle 211154146314ArgCys 15892853, 7647010, 3771562, 2752109314ArgHis 8839854342PheVal 16503555 343GluLys 10651742352 Glu Lys 15892853352GluLys 10651742363ArgHis 10627484 373GlySerPeptidase S115634277, 11154146380MetThrPeptidase S11421398383ArgTrpPeptidase S19351523397SerArgPeptidase S111154146400TrpCysPeptidase S19134629405AlaThrPeptidase S115892853425ArgCysPeptidase S13242619, 8839854425ArgHisPeptidase S111154146431ArgHisPeptidase S11421398461ArgTrpPeptidase S13567158, 1421398500ArgGlnPeptidase S114629473509GluAlaPeptidase S17792730, 1354985521SerAlaPeptidase S110739913560ArgGlnPeptidase S19490687563AlaValPeptidase S116543981 581ArgCysPeptidase S111154146591GlyAlaPeptidase S111858488595AspGluPeptidase S116487178599LysThrPeptidase S111341500601GlyValPeptidase S12719946 Insertion Mutation Codon Exon/Intron Domain PMID 468insT Exon 6 Kringle 1 3567158, 1334372 4304insG 15892853 4177insT Exon 6 1334372 Deletion Mutation Codon Exon/Intron Domain PMID 877delG 249-250 Exon 8 Kringle 2 9351523, 671167 20062-20063delGT Exon 14 Catalytic 12492590 1032delGAA Exon 9 Catalytic 11154146 19771del Exon 13 Catalytic 14629473 7484-7489delGAA 15892853 459delT Intron A 15892853 7248-7249delG Exon 8 9351523 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln519X Exon 12 Peptidase S1 16543981 Gln584X Exon 14 Peptidase S1 8839854 Trp612X Exon 14 Peptidase S1 9890721 Polymorphism Mutation* Codon Exon/Intron Domain PMID Leu56Leu Gla 15892853 A554G 15892853 T4048C Intron E 15892853 C4125G Intron E 15892853 C4203T Exon 6 15892853 G4272A Intron F 15892853 A4282G Intron F 15892853 A4291G Intron F 15892853 A4298G Intron F 15892853 C7177T Intron 7 1334372 G20210A 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, A19911G 20482605 Splice site Mutation Codon Exon/Intron Domain PMID IVS2-25C>G Intron 2 9890721 IVS5+1G>A Intron 5 14629473 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Home > Mutations
The mutations reported from Factor II are listed below:
Click on the highlighted residues for further information on mutation. MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKYGFYTHVFRLKKWIQKVIDQFGE Missense Position* Wild type Mutant Domain PMID 4ArgGln 2169285459GluGlnGla14629473 87TyrCysGla7740448161AspTyrKringle 111154146165ThrMetKringle 115892853181CysTyrKringle 19134629200GluLys 6405779215TrpAlaKringle 219586901217GluAlaKringle 219586901263ArgCysKringle 211154146314ArgCys 15892853, 7647010, 3771562, 2752109314ArgHis 8839854342PheVal 16503555 343GluLys 10651742352 Glu Lys 15892853352GluLys 10651742363ArgHis 10627484 373GlySerPeptidase S115634277, 11154146380MetThrPeptidase S11421398383ArgTrpPeptidase S19351523397SerArgPeptidase S111154146400TrpCysPeptidase S19134629405AlaThrPeptidase S115892853425ArgCysPeptidase S13242619, 8839854425ArgHisPeptidase S111154146431ArgHisPeptidase S11421398461ArgTrpPeptidase S13567158, 1421398500ArgGlnPeptidase S114629473509GluAlaPeptidase S17792730, 1354985521SerAlaPeptidase S110739913560ArgGlnPeptidase S19490687563AlaValPeptidase S116543981 581ArgCysPeptidase S111154146591GlyAlaPeptidase S111858488595AspGluPeptidase S116487178599LysThrPeptidase S111341500601GlyValPeptidase S12719946 Insertion Mutation Codon Exon/Intron Domain PMID 468insT Exon 6 Kringle 1 3567158, 1334372 4304insG 15892853 4177insT Exon 6 1334372 Deletion Mutation Codon Exon/Intron Domain PMID 877delG 249-250 Exon 8 Kringle 2 9351523, 671167 20062-20063delGT Exon 14 Catalytic 12492590 1032delGAA Exon 9 Catalytic 11154146 19771del Exon 13 Catalytic 14629473 7484-7489delGAA 15892853 459delT Intron A 15892853 7248-7249delG Exon 8 9351523 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln519X Exon 12 Peptidase S1 16543981 Gln584X Exon 14 Peptidase S1 8839854 Trp612X Exon 14 Peptidase S1 9890721 Polymorphism Mutation* Codon Exon/Intron Domain PMID Leu56Leu Gla 15892853 A554G 15892853 T4048C Intron E 15892853 C4125G Intron E 15892853 C4203T Exon 6 15892853 G4272A Intron F 15892853 A4282G Intron F 15892853 A4291G Intron F 15892853 A4298G Intron F 15892853 C7177T Intron 7 1334372 G20210A 20301226, 19937244, 20331761, 20664902, 21429375, 20231421, A19911G 20482605 Splice site Mutation Codon Exon/Intron Domain PMID IVS2-25C>G Intron 2 9890721 IVS5+1G>A Intron 5 14629473 * 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.
MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTATDVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNPDSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASAQAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEYQTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRWVLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHPVCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKRGDACEGDSGGPFVMKSPFNNRWYQMGIVSWGEGCDRDGKYGFYTHVFRLKKWIQKVIDQFGE
Missense
Insertion
Deletion
Nonsense
Polymorphism
Splice site
* The positions are based on the protein sequence inclusive of the signal peptide if present.
©Biomedical Informatics Centre, NIRRH, Mumbai