Home > Mutations Untitled Document The mutations reported from Protein C are listed below: Click on the highlighted residues for further information on mutation. MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP Missense Position* Wild type Mutant Domain PMID 43AlaThrGla1066916044AsnIleGla19133979, 2018789047LeuGlnGla770147348GluGlyGla1636079749GluAspGla797434351ArgCysGla8446940, 7482420, 767010451ArgHisGla10691853, 1563433552HisGlnGla1563433553SerArgGla1066916053SerGlyGla1066916054SerArgGla1066916054SerAsnGla1066916054SerCysGla7795150, 1066916055LeuProGla897200257ArgGlnGla7951255, 888982257ArgGlyGla847706657ArgLeuGla888982257ArgProGla888982257ArgTrpGla8477066, 8499568, 8446940, 7482420, 7792728, 12439046, 77958GluAspGla770147362GluAlaGla1347706, 748242062GluGlnGla748242065AspSerGla1563433568GluAspGla770147368GluLysGla811599074GlnAlaGla1563433574GlnGluGla811079075AsnAspGla1563433576ValAlaGla1563433576ValMetGla7489240, 134770677AspAlaGla1563433577AspGlyGla11091192, 767010482PheLeuGla767010484MetThrGla786567486HisTyrGla1563433588AspAsnGla1636079788AspTyrGla1875172389GlyCys 760588090AspGlu 895078096ProSer 7981702106CysGlyEGF-like 116360797106CysTrpEGF-like 117649704108HisAsnEGF-like 110942114108HisAspEGF-like 110942114110ThrArgEGF-like 110669160113AspAlaEGF-like 18950780114GlyArgEGF-like 17792728114GlyCysEGF-like 116360797118PheLeuEGF-like 17670104118PheValEGF-like 110669160125GlyCysEGF-like 110942953129ArgHisEGF-like 18845458131CysSerEGF-like 110669160133ArgPro 10669160144AsnIleEGF-like 210669160144AsnLysEGF-like 27841323144AsnSerEGF-like 218725346145GlyArgEGF-like 28292730147CysTyrEGF-like 221811774149HisProEGF-like 28292730166TyrCysEGF-like 28607097176HisAsnEGF-like 211243145178AlaPro 7878626, 8208728181PheLeu 16689777181PheVal 10810872, 9840027, 10805275, 17649704185ArgSer 9840027189ArgTrp 15114590, 8208728200AspGlu 10669160209AspGly 8208728209AspPhe 8208728210ProLeu 8292730, 8208728210ProVal 8167337211ArgGln 12697119, 8208728211ArgTrp 18376272, 12583631, 17603240, 10810872, 9840027, 10805275, 211ArgTyr 9610620214AspAsnPeptidase S18208728215GlyArgPeptidase S116360797215GlyGluPeptidase S111091192218ThrIlePeptidase S17705844220ArgGlnPeptidase S19798967, 7795152, 8807339, 8499565, 1301954, 1301959, 82087220ArgProPeptidase S17605880220ArgTrpPeptidase S118799939, 1301954, 16360797222AspGlyPeptidase S112362235223SerArgPeptidase S119133979, 20187890225TrpSerPeptidase S111091192226GlnHisPeptidase S17974377, 8208728235LysGlnPeptidase S110669160243IleThrPeptidase S18292730, 8208728244HisTyrPeptidase S18208728248ValAlaPeptidase S115114590252AsnValPeptidase S19788727253HisGlnPeptidase S18208728254CysArgPeptidase S116360797265LeuPhePeptidase S18208728, 8128429, 15114590267GluLysPeptidase S17906267271ArgGlnPeptidase S17974343, 8324221, 8208728271ArgTrpPeptidase S18208728272ArgCysPeptidase S111091192272ArgHisPeptidase S115114590272ArgLysPeptidase S19990817277GluLysPeptidase S17540990279AspGlyPeptidase S110669160289ProLeuPeptidase S18208728290AsnIlePeptidase S19788727294SerAsnPeptidase S17974343, 8324221, 8208728296ThrIlePeptidase S111091192, 9990817297AspHisPeptidase S120829681, 20510102, 19923982, 20860169, 298AsnAspPeptidase S18208728301AlaSerPeptidase S110669160301AlaThrPeptidase S111434940, 7605880301AlaValPeptidase S18208728309AlaThrPeptidase S120829681, 20510102, 19923982, 20860169, 309AlaValPeptidase S17670104312SerLeuPeptidase S17670104, 11380450312SerProPeptidase S17670104, 7919373320LeuArgPeptidase S110669160321ProLeuPeptidase S18292730, 7831652324GlyArgPeptidase S17792728324GlySerPeptidase S17831652328ArgCysPeptidase S17792728328ArgHisPeptidase S19840027, 7878626, 8208728330LeuIlePeptidase S115978566332GlnHisPeptidase S110669160334GlySerPeptidase S18208728335GlnHisPeptidase S17670104339ValMetPeptidase S110810872, 9840027, 10805275, 8883262, 7670104340ThrLysPeptidase S17670104340ThrMetPeptidase S19798967, 7913773, 8292730, 8208728, 7670104342TrpCysPeptidase S116360797343GlyAspPeptidase S18208728348ArgGlnPeptidase S117872949356ArgHisPeptidase S17670104367ValAlaPeptidase S116360797367ValMetPeptidase S116360797369ProLeuPeptidase S17792728, 7865674373CysArgPeptidase S19840027377MetThrPeptidase S17670104383GluGlyPeptidase S19840027385MetIlePeptidase S17670104388AlaGluPeptidase S110669160388AlaThrPeptidase S19690806, 8208728388AlaValPeptidase S18208728389GlyAlaPeptidase S110942114389GlyAspPeptidase S110669160392GlyArgPeptidase S17865674394ArgTrpPeptidase S110691853, 7831652, 8208728397AlaValPeptidase S19788727401AspAsnPeptidase S19840027, 7865674, 9990817, 8208728402SerAlaPeptidase S19007985406MetIlePeptidase S110810872, 9840027, 10805275, 8165644, 8883262406MetTrpPeptidase S111091192410PheSerPeptidase S19840027412GlySerPeptidase S17670104414TrpArgPeptidase S110669160416LeuProPeptidase S110669160418GlyAspPeptidase S11611081, 8208728422TrpCysPeptidase S19840027422TrpGlyPeptidase S114989454, 10942114423GlyAspPeptidase S18018768423GlySerPeptidase S18208728, 8018768, 8398832426CysTyrPeptidase S18292730429LeuPhePeptidase S19840027431AsnLysPeptidase S17670104433GlySerPeptidase S18208728, 15978566436ThrAspPeptidase S18829639441TyrHisPeptidase S17865674444TrpCysPeptidase S12437584, 16113807445IleLeuPeptidase S17670104445IleMetPeptidase S18208728, 8128429, 7670104 Insertion Mutation Codon Exon/Intron Domain PMID 9-bp insertion Exon 5 8972002 8826insCCTG Exon 9 12695756 3363insC 9798967 3350insA 7841323 insC 7913773, 10805275, 8446940, 2521802 6139insTT 1301954 3350insA 7841323 3363insC 9798967 Deletion Mutation Codon Exon/Intron Domain PMID del Lys150/ 151 12492584, 9840027, 17649704 7173-7182delGCGGGGCAGT Exon 8 15748260 8857delG 10810872, 9840027, 10805275, 1469096, 8883262 5bp del 3455-3459 Exon 6 7919373 delCCCGC Exon 6 1611081 del 364 8292730 3447-3451delCCCGC Exon 6 1611081 3351del 7841323 3ntdelAAG exon7 19822351 3ntdelGAC exon9 21744130 Nonsense Mutation* Codon Exon/Intron Domain PMID Cys59X Gla 18376272 Trp83X Exon 4 Gla 11336399 Cys105X EGF1 1868249 Arg157X EGF2 8499565 Gln174X Exon 6 EGF2 8607097 Gln174X Exon 6 EGF2 1868249 Trp187X 8292730 Arg199X Exon 7 9990817, 8499565, 1301959, 7894031 Arg348X Peptidase S1 1348046, 2437584, 1868249 Polymorphism Mutation* Codon Exon/Intron Domain PMID Cys154Thr 17603240 Pro21Pro 8972002 Ser141Ser EGF2 17603240 Splice site Mutation Codon Exon/Intron Domain PMID G2992A Intron D 7792728 G3079A 9840027 6274C>T Intron G 1301954 3318A>G Intron 5 8244342 * The positions are based on the protein sequence inclusive of the signal peptide if present.
Home > Mutations
The mutations reported from Protein C are listed below:
Click on the highlighted residues for further information on mutation.
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP
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