Home > Mutations Untitled Document The mutations reported from Factor XII are listed below: Click on the highlighted residues for further information on mutation. MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGPFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS Missense Position* Wild type Mutant Domain PMID 53TyrCysFibronectin type-II1036112873CysSerFibronectin type-II1871064784ArgProFibronectin type-II21297451142ArgProFibronectin type-I11776307241TrpGlyKringle21271273328ThrArg 19477491, 16638441328ThrLys 20829681, 20510102, 19923982, 20860169, 343AlaPro 21264442365LysAsn 20829681, 20510102, 19923982, 20860169, 372ArgPro 8049433411AlaThrPeptidase S115617741414LeuMetPeptidase S19354665417ArgGlnPeptidase S19354665422AspAsnPeptidase S19354665440GlnLysPeptidase S111776307461AspAsnPeptidase S19354665466ArgSerPeptidase S121271273505TrpCysPeptidase S115205584528SerPhePeptidase S120386432550GlyGluPeptidase S121264442566ProLeuPeptidase S118832903582GlySerPeptidase S120386432589GlyArgPeptidase S19354665590CysSerPeptidase S17693250, 2510163 Insertion Mutation Codon Exon/Intron Domain PMID 1093_1094insC 20386432 Deletion Mutation Codon Exon/Intron Domain PMID 10590delC Exon 12 9354665 delCA at 9160-9161 exon 5 21192253 249delG exon 4 20729721 Nonsense Mutation* Codon Exon/Intron Domain PMID Cys135X 20729721, 20386432 Gln520X Exon 13 Peptidase S1 18832903 Polymorphism Mutation* Codon Exon/Intron Domain PMID Cys46Thr Fibronectin 2 18710647 Splice site Mutation Codon Exon/Intron Domain PMID 11396G>A 8528215 11397G>A Exon 14 9354665 * The positions are based on the protein sequence inclusive of the signal peptide if present.
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The mutations reported from Factor XII are listed below:
Click on the highlighted residues for further information on mutation. MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGPFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS Missense Position* Wild type Mutant Domain PMID 53TyrCysFibronectin type-II1036112873CysSerFibronectin type-II1871064784ArgProFibronectin type-II21297451142ArgProFibronectin type-I11776307241TrpGlyKringle21271273328ThrArg 19477491, 16638441328ThrLys 20829681, 20510102, 19923982, 20860169, 343AlaPro 21264442365LysAsn 20829681, 20510102, 19923982, 20860169, 372ArgPro 8049433411AlaThrPeptidase S115617741414LeuMetPeptidase S19354665417ArgGlnPeptidase S19354665422AspAsnPeptidase S19354665440GlnLysPeptidase S111776307461AspAsnPeptidase S19354665466ArgSerPeptidase S121271273505TrpCysPeptidase S115205584528SerPhePeptidase S120386432550GlyGluPeptidase S121264442566ProLeuPeptidase S118832903582GlySerPeptidase S120386432589GlyArgPeptidase S19354665590CysSerPeptidase S17693250, 2510163 Insertion Mutation Codon Exon/Intron Domain PMID 1093_1094insC 20386432 Deletion Mutation Codon Exon/Intron Domain PMID 10590delC Exon 12 9354665 delCA at 9160-9161 exon 5 21192253 249delG exon 4 20729721 Nonsense Mutation* Codon Exon/Intron Domain PMID Cys135X 20729721, 20386432 Gln520X Exon 13 Peptidase S1 18832903 Polymorphism Mutation* Codon Exon/Intron Domain PMID Cys46Thr Fibronectin 2 18710647 Splice site Mutation Codon Exon/Intron Domain PMID 11396G>A 8528215 11397G>A Exon 14 9354665 * 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.
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGPFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS
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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