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Results for the Protein: P00742
119761
F10

FA10_HUMAN RecName: Full=Coagulation factor X; AltName: Full=Stuart factor; AltName: Full=Stuart-Prower factor; Contains: RecName: Full=Factor X light chain; Contains: RecName: Full=Factor X heavy chain; Contains: RecName: Full=Activated factor Xa heavy chain; Flags: Precursor

Known Diseases associated with this Protein:
  FACTOR X DEFICIENCY
  FACTOR X DEFICIENCY (FA10D)
  FACTOR X DEFICIENCY, AUTOSOMAL DOMINANT
37
5
13
2
27
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GLA - smart00069
EGF_CA - smart00179
EGF - smart00181
Tryp_SPc - smart00020


Swiss-Prot Protein: P00742
Identical to: NP_000495
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GLAsmart000696.7e-382285
EGF_CAsmart001792.8e-1186122
EGFsmart001812.9e-0889122
EGFsmart001817.5e-06128165
Tryp_SPcsmart000206.1e-98234462

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020176Polymorphismp.ALA152THRN/A
Swiss-ProtVAR_065445Diseasep.ARG366CYSFactor X deficiency (FA10D)
Swiss-ProtVAR_065440Diseasep.ARG327TRPFactor X deficiency (FA10D)
Swiss-ProtVAR_065439Diseasep.ASP322ASNFactor X deficiency (FA10D)
Swiss-ProtVAR_065449Diseasep.CYS404ARGFactor X deficiency (FA10D)
Swiss-ProtVAR_065448Diseasep.CYS390PHEFactor X deficiency (FA10D)
Swiss-ProtVAR_065435Diseasep.CYS149TYRFactor X deficiency (FA10D)
Swiss-ProtVAR_065436Diseasep.CYS151TYRFactor X deficiency (FA10D)
dbSNPrs5961 Polymorphismp.GLN30HISN/A
Swiss-ProtVAR_065432Diseasep.GLU72GLNFactor X deficiency (FA10D)
Swiss-ProtVAR_065428Diseasep.GLU47GLYFactor X deficiency (FA10D)
Swiss-ProtVAR_065430Diseasep.GLU54GLYFactor X deficiency (FA10D)
Swiss-ProtVAR_065434Polymorphismp.GLU142LYSN/A
Swiss-ProtVAR_065438Diseasep.GLU304LYSFactor X deficiency (FA10D)
Swiss-ProtVAR_065442Diseasep.GLU350LYSFactor X deficiency (FA10D)
Swiss-ProtVAR_065431Diseasep.GLU54LYSFactor X deficiency (FA10D)
Swiss-ProtVAR_065433Diseasep.GLU91LYSFactor X deficiency (FA10D)
dbSNPrs3211783 Polymorphismp.GLY192ARGN/A
Swiss-ProtVAR_065437Diseasep.GLY289ARGFactor X deficiency (FA10D)
Swiss-ProtVAR_065451Diseasep.GLY420ARGFactor X deficiency (FA10D)
Swiss-ProtVAR_065444Diseasep.GLY363SERFactor X deficiency (FA10D)
Swiss-ProtVAR_065450Diseasep.GLY406SERFactor X deficiency (FA10D)
Swiss-ProtVAR_065429Diseasep.GLY51VALFactor X deficiency (FA10D)
Swiss-ProtVAR_014162Polymorphismp.LEU7ILEN/A
Swiss-ProtVAR_065452Diseasep.LYS448ASNFactor X deficiency (FA10D)
Swiss-ProtVAR_065447Diseasep.PRO383SERFactor X deficiency (FA10D)
Swiss-ProtVAR_065446Diseasep.SER374PROFactor X deficiency (FA10D)
Swiss-ProtVAR_065443Diseasep.THR358METFactor X deficiency (FA10D)
Swiss-ProtVAR_065441Diseasep.VAL338METFactor X deficiency (FA10D)
OMIM613872.0001 Diseasep.ARG366CYSFACTOR X DEFICIENCY
OMIM613872.0014 Diseasep.ARG287TRPFACTOR X DEFICIENCY
OMIM613872.0008 Diseasep.ASP282ASNFACTOR X DEFICIENCY
OMIM613872.0011 Diseasep.GLU32GLNFACTOR X DEFICIENCY
OMIM613872.0010 Diseasep.GLU14GLYFACTOR X DEFICIENCY
OMIM613872.0009 Diseasep.GLU7GLYFACTOR X DEFICIENCY
OMIM613872.0007 Diseasep.GLU102LYSFACTOR X DEFICIENCY
OMIM613872.0003 Diseasep.GLU14LYSFACTOR X DEFICIENCY
OMIM613872.0012 Diseasep.GLY249ARGFACTOR X DEFICIENCY, AUTOSOMAL DOMINANT
OMIM613872.0004 Diseasep.PRO343SERFACTOR X DEFICIENCY
OMIM613872.0006 Diseasep.SER334PROFACTOR X DEFICIENCY
OMIM613872.0015 Diseasep.THR318METFACTOR X DEFICIENCY
OMIM613872.0013 Diseasep.VAL298METFACTOR X DEFICIENCY



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