Home > Mutations Untitled Document The mutations reported from Factor X are listed below: Click on the highlighted residues for further information on mutation. MGRPLHLVLLSASLAGLLLLGESLFIRREQANNILARVTRANSFLEEMKKGHLERECMEETCSYEEAREVFEDSDKTNEFWNKYKDGDQCETSPCQNQGKCKDGLGEYTCTCLEGFEGKNCELFTRKLCSLDNGDCDQFCHEEQNSVVCSCARGYTLADNGKACIPTGPYPCGKQTLERRKRSVAQATSSSGEAPDSITWKPYDAADLDPTENPFDLLDFNQTQPERGDNNLTRIVGGQECKDGECPWQALLINEENEGFCGGTILSEFYILTAAHCLYQAKRFKVRVGDRNTEQEEGGEAVHEVEVVIKHNRFTKETYDFDIAVLRLKTPITFRMNVAPACLPERDWAESTLMTQKTGIVSGFGRTHEKGRQSTRLKMLEVPYVDRNSCKLSSSFIITQNMFCAGYDTKQEDACQGDSGGPHVTRFKDTYFVTGIVSWGEGCARKGKYGIYTKVTAFLKWIDRSMKTRGLPKAKSHAPEVITSSPLK Missense Position* Wild type Mutant Domain PMID 8ValPhe 2033175415AlaAsp 2033175440ArgThr 2185451143SerCysGla1530711547GluGlyGla891049047GluLysGla1691907751GlyArgGla2185451151GlyValGla19135706 54GluGlyGla786006954GluLysGla197316756GluLysGla1749808659GluAlaGla1219569565GluLysGla962221266GluAspGla786006969GluLysGla2185451171PheSerGla15892863, 17391309, 1506075091GluLysEGF-like 1; calcium-bindi1739301597AsnThrEGF-like 1; calcium-bindi 99GlyArgEGF-like 1; calcium-bindi20331754118GlyAspEGF-like 1; calcium-bindi12028042121CysTyrEGF-like 1; calcium-bindi12028042134GlyArgEGF-like 212028042135AspGluEGF-like 212028042149CysTyrEGF-like 210746568151CysTyrEGF-like 210746568154GlyArgEGF-like 29531027173GlyArg 15892863179ArgCys 7605799179ArgSer 11248292182ArgMet 16919077192GlyArg 16919077236ValMetPeptidase S118270656244GlyArgPeptidase S118245654262GlyAspPeptidase S112028042263GlyArgPeptidase S115892863274AlaSerPeptidase S116919077279TyrAsnPeptidase S112813758285LysMetPeptidase S120331754286ValMetPeptidase S119404516 288ValAlaPeptidase S120331754289GlyArgPeptidase S110746568290AspLysPeptidase S18063784291ArgAlaPeptidase S114739327291ArgTrpPeptidase S112413589294GluAlaPeptidase S114739327296GluAlaPeptidase S114739327297GluAlaPeptidase S114739327304GluLysPeptidase S110746568321PheLeuPeptidase S116919077322AspAsnPeptidase S1 327ArgTrpPeptidase S110746568338ValMetPeptidase S110746568344ProSerPeptidase S19799000346ArgCysPeptidase S19799000350GluLysPeptidase S110746568354MetargPeptidase S120331754358ThrMetPeptidase S110746568, 15892863363GlySerPeptidase S110746568365GlyArgPeptidase S116919077366ArgCysPeptidase S11985698366ArgLysPeptidase S18529633369GluGlyPeptidase S116919077373GlnArgPeptidase S115660986374SerProPeptidase S110739379, 11728527, 7669671382ValAlaPeptidase S115075089383ProSerPeptidase S120829681, 20510102, 19923982, 20860169, 384TyrCysPeptidase S116919077387ArgAlaPeptidase S110715105387ArgAsnPeptidase S110715105387ArgAspPeptidase S115660986387ArgCysPeptidase S116919077387ArgHisPeptidase S115569527, 15660986390CysPhePeptidase S112413589, 12945883393SerTyrPeptidase S116919077394SerArgPeptidase S115892863396PheCysPeptidase S115543350403PheIlePeptidase S116919077404CysArgPeptidase S110746568, 17083512406GlySerPeptidase S115892863, 15650540, 9531027419SerAsnPeptidase S116919077419SerLysPeptidase S116919077420GlyArgPeptidase S115644837, 11728527, 16919077421GlyAspPeptidase S112574802422ProLeuPeptidase S115543350423HisGlnPeptidase S18529633444AlaThrPeptidase S111246545445ArgGlyPeptidase S111246545448LysAsnPeptidase S111248282449TyrProPeptidase S112149252451IlePhePeptidase S112871478461TrpArgPeptidase S18529633 Insertion Mutation Codon Exon/Intron Domain PMID 882-883insC Exon 8 Catalytic 14748350 Deletion Mutation Codon Exon/Intron Domain PMID 514delT 15892863 deletion of exon 6 Exon 6 19404516 33-34delGC 15060750 Tyr163delAT 16919077 delCTT Intron D 9734641 556delC Exon 6 Catalytic 11248282 608delAT Exon 6 Catalytic 16919077 814delC Exon 7 Catalytic 2790181 929delTCA Exon 8 Catalytic 16919077 1151del17bp Exon 8 10746568 1429del5bp 437-438 Exon 8 Catalytic 18064309 1402_1403dupA exon 8 21682820 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln356X exon8 20331754 Polymorphism Mutation* Codon Exon/Intron Domain PMID C-222T 11434677 C-220A 11434677 C-40T 11434677 Thr224Thr Exon 7 15892863, 1677764 516T>G Exon 6 15892863 792C>T Exon 7 18403394 Splice site Mutation Codon Exon/Intron Domain PMID IVS1+1 G>A Intron 1 15569527, 15660986 IVS1+3 A>T Intron 1 12028042 IVS1-1 G>C Intron 2 9734641 IVS2-3 T>G Intron 1 12028042 IVS4-8 del CTT Intron 4 9734641 865 G>C Exon 7 9734641 IVS1(-52) insCCTCTT 15892863 IVS7(+33)A>G 15892863 IVS3(+98)C>A 15892863 IVS2(-17)T>C 15892863 IVS7-1 G>A Intron 7 16919077 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Home > Mutations
The mutations reported from Factor X are listed below:
Click on the highlighted residues for further information on mutation. MGRPLHLVLLSASLAGLLLLGESLFIRREQANNILARVTRANSFLEEMKKGHLERECMEETCSYEEAREVFEDSDKTNEFWNKYKDGDQCETSPCQNQGKCKDGLGEYTCTCLEGFEGKNCELFTRKLCSLDNGDCDQFCHEEQNSVVCSCARGYTLADNGKACIPTGPYPCGKQTLERRKRSVAQATSSSGEAPDSITWKPYDAADLDPTENPFDLLDFNQTQPERGDNNLTRIVGGQECKDGECPWQALLINEENEGFCGGTILSEFYILTAAHCLYQAKRFKVRVGDRNTEQEEGGEAVHEVEVVIKHNRFTKETYDFDIAVLRLKTPITFRMNVAPACLPERDWAESTLMTQKTGIVSGFGRTHEKGRQSTRLKMLEVPYVDRNSCKLSSSFIITQNMFCAGYDTKQEDACQGDSGGPHVTRFKDTYFVTGIVSWGEGCARKGKYGIYTKVTAFLKWIDRSMKTRGLPKAKSHAPEVITSSPLK Missense Position* Wild type Mutant Domain PMID 8ValPhe 2033175415AlaAsp 2033175440ArgThr 2185451143SerCysGla1530711547GluGlyGla891049047GluLysGla1691907751GlyArgGla2185451151GlyValGla19135706 54GluGlyGla786006954GluLysGla197316756GluLysGla1749808659GluAlaGla1219569565GluLysGla962221266GluAspGla786006969GluLysGla2185451171PheSerGla15892863, 17391309, 1506075091GluLysEGF-like 1; calcium-bindi1739301597AsnThrEGF-like 1; calcium-bindi 99GlyArgEGF-like 1; calcium-bindi20331754118GlyAspEGF-like 1; calcium-bindi12028042121CysTyrEGF-like 1; calcium-bindi12028042134GlyArgEGF-like 212028042135AspGluEGF-like 212028042149CysTyrEGF-like 210746568151CysTyrEGF-like 210746568154GlyArgEGF-like 29531027173GlyArg 15892863179ArgCys 7605799179ArgSer 11248292182ArgMet 16919077192GlyArg 16919077236ValMetPeptidase S118270656244GlyArgPeptidase S118245654262GlyAspPeptidase S112028042263GlyArgPeptidase S115892863274AlaSerPeptidase S116919077279TyrAsnPeptidase S112813758285LysMetPeptidase S120331754286ValMetPeptidase S119404516 288ValAlaPeptidase S120331754289GlyArgPeptidase S110746568290AspLysPeptidase S18063784291ArgAlaPeptidase S114739327291ArgTrpPeptidase S112413589294GluAlaPeptidase S114739327296GluAlaPeptidase S114739327297GluAlaPeptidase S114739327304GluLysPeptidase S110746568321PheLeuPeptidase S116919077322AspAsnPeptidase S1 327ArgTrpPeptidase S110746568338ValMetPeptidase S110746568344ProSerPeptidase S19799000346ArgCysPeptidase S19799000350GluLysPeptidase S110746568354MetargPeptidase S120331754358ThrMetPeptidase S110746568, 15892863363GlySerPeptidase S110746568365GlyArgPeptidase S116919077366ArgCysPeptidase S11985698366ArgLysPeptidase S18529633369GluGlyPeptidase S116919077373GlnArgPeptidase S115660986374SerProPeptidase S110739379, 11728527, 7669671382ValAlaPeptidase S115075089383ProSerPeptidase S120829681, 20510102, 19923982, 20860169, 384TyrCysPeptidase S116919077387ArgAlaPeptidase S110715105387ArgAsnPeptidase S110715105387ArgAspPeptidase S115660986387ArgCysPeptidase S116919077387ArgHisPeptidase S115569527, 15660986390CysPhePeptidase S112413589, 12945883393SerTyrPeptidase S116919077394SerArgPeptidase S115892863396PheCysPeptidase S115543350403PheIlePeptidase S116919077404CysArgPeptidase S110746568, 17083512406GlySerPeptidase S115892863, 15650540, 9531027419SerAsnPeptidase S116919077419SerLysPeptidase S116919077420GlyArgPeptidase S115644837, 11728527, 16919077421GlyAspPeptidase S112574802422ProLeuPeptidase S115543350423HisGlnPeptidase S18529633444AlaThrPeptidase S111246545445ArgGlyPeptidase S111246545448LysAsnPeptidase S111248282449TyrProPeptidase S112149252451IlePhePeptidase S112871478461TrpArgPeptidase S18529633 Insertion Mutation Codon Exon/Intron Domain PMID 882-883insC Exon 8 Catalytic 14748350 Deletion Mutation Codon Exon/Intron Domain PMID 514delT 15892863 deletion of exon 6 Exon 6 19404516 33-34delGC 15060750 Tyr163delAT 16919077 delCTT Intron D 9734641 556delC Exon 6 Catalytic 11248282 608delAT Exon 6 Catalytic 16919077 814delC Exon 7 Catalytic 2790181 929delTCA Exon 8 Catalytic 16919077 1151del17bp Exon 8 10746568 1429del5bp 437-438 Exon 8 Catalytic 18064309 1402_1403dupA exon 8 21682820 Nonsense Mutation* Codon Exon/Intron Domain PMID Gln356X exon8 20331754 Polymorphism Mutation* Codon Exon/Intron Domain PMID C-222T 11434677 C-220A 11434677 C-40T 11434677 Thr224Thr Exon 7 15892863, 1677764 516T>G Exon 6 15892863 792C>T Exon 7 18403394 Splice site Mutation Codon Exon/Intron Domain PMID IVS1+1 G>A Intron 1 15569527, 15660986 IVS1+3 A>T Intron 1 12028042 IVS1-1 G>C Intron 2 9734641 IVS2-3 T>G Intron 1 12028042 IVS4-8 del CTT Intron 4 9734641 865 G>C Exon 7 9734641 IVS1(-52) insCCTCTT 15892863 IVS7(+33)A>G 15892863 IVS3(+98)C>A 15892863 IVS2(-17)T>C 15892863 IVS7-1 G>A Intron 7 16919077 * 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.
MGRPLHLVLLSASLAGLLLLGESLFIRREQANNILARVTRANSFLEEMKKGHLERECMEETCSYEEAREVFEDSDKTNEFWNKYKDGDQCETSPCQNQGKCKDGLGEYTCTCLEGFEGKNCELFTRKLCSLDNGDCDQFCHEEQNSVVCSCARGYTLADNGKACIPTGPYPCGKQTLERRKRSVAQATSSSGEAPDSITWKPYDAADLDPTENPFDLLDFNQTQPERGDNNLTRIVGGQECKDGECPWQALLINEENEGFCGGTILSEFYILTAAHCLYQAKRFKVRVGDRNTEQEEGGEAVHEVEVVIKHNRFTKETYDFDIAVLRLKTPITFRMNVAPACLPERDWAESTLMTQKTGIVSGFGRTHEKGRQSTRLKMLEVPYVDRNSCKLSSSFIITQNMFCAGYDTKQEDACQGDSGGPHVTRFKDTYFVTGIVSWGEGCARKGKYGIYTKVTAFLKWIDRSMKTRGLPKAKSHAPEVITSSPLK
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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