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Results for the Protein: P08709
119766
F7

FA7_HUMAN RecName: Full=Coagulation factor VII; AltName: Full=Proconvertin; AltName: Full=Serum prothrombin conversion accelerator; Short=SPCA; AltName: INN=Eptacog alfa; Contains: RecName: Full=Factor VII light chain; Contains: RecName: Full=Factor VII heavy chain; Flags: Precursor

Known Diseases associated with this Protein:
  FACTOR VII DEFICIENCY
  FACTOR VII DEFICIENCY (FA7D)
  FACTOR VII PADUA
  MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
123
5
16
1
111
Tips:
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Default View:

GLA - smart00069
Gla - pfam00594
EGF_CA - smart00179
EGF_CA - cd00054
EGF - smart00181
EGF - cd00053
EGF - pfam00008
Tryp_SPc - smart00020
Tryp_SPc - cd00190
Trypsin - pfam00089


Swiss-Prot Protein: P08709
Identical to: NP_000122
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000542e-11106142
EGFcd000538.2e-10109142
Tryp_SPccd001904.5e-94213450
Glapfam005947.8e-1965106
EGFpfam000087.6e-06110140
Trypsinpfam000891.1e-63213447
GLAsmart000693.1e-3542105
EGF_CAsmart001791.1e-09106142
EGFsmart001818.4e-08109142
Tryp_SPcsmart000201.7e-94212447

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065389Diseasep.ALA251PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_065390Diseasep.ALA251THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_015140Diseasep.ALA266THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_014416Diseasep.ALA304THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_013122Polymorphismp.ALA352THRN/A
Swiss-ProtVAR_065425Diseasep.ALA429THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_006508Diseasep.ALA304VALFactor VII deficiency (FA7D)
Swiss-ProtVAR_006511Diseasep.ALA354VALFactor VII deficiency (FA7D)
Swiss-ProtVAR_014417Diseasep.ARG307CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065401Diseasep.ARG337CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065405Diseasep.ARG350CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_006498Diseasep.ARG139GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_006505Diseasep.ARG212GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065400Diseasep.ARG326GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_006514Diseasep.ARG364GLNFactor VII deficiency (FA7D)
dbSNPrs6046 Polymorphismp.ARG413GLNN/A
Swiss-ProtVAR_065420Diseasep.ARG413GLYFactor VII deficiency (FA7D)
Swiss-ProtVAR_065374Diseasep.ARG88GLYFactor VII deficiency (FA7D)
Swiss-ProtVAR_006509Diseasep.ARG307HISFactor VII deficiency (FA7D)
Swiss-ProtVAR_006497Diseasep.ARG139LYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065375Diseasep.ARG88PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_006499Diseasep.ARG139TRPFactor VII deficiency (FA7D)
Swiss-ProtVAR_006507Diseasep.ARG283TRPFactor VII deficiency (FA7D)
Swiss-ProtVAR_065408Diseasep.ARG364TRPFactor VII deficiency (FA7D)
Swiss-ProtVAR_065409Diseasep.ARG375TRPFactor VII deficiency (FA7D)
Swiss-ProtVAR_065376Diseasep.ASN117ASPFactor VII deficiency (FA7D)
Swiss-ProtVAR_065382Diseasep.ASP183ASNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065393Diseasep.ASP272ASNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065394Diseasep.ASP277ASNFactor VII deficiency (FA7D)
Swiss-ProtVAR_014415Diseasep.ASP302ASNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065415Diseasep.ASP398GLUFactor VII deficiency (FA7D)
Swiss-ProtVAR_014414Diseasep.ASP302HISFactor VII deficiency (FA7D)
Swiss-ProtVAR_015144Diseasep.ASP403HISFactor VII deficiency (FA7D)
Swiss-ProtVAR_014412Diseasep.CYS195ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_065391Diseasep.CYS254ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_065371Diseasep.CYS82ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_014392Diseasep.CYS389GLYFactor VII deficiency (FA7D)
Swiss-ProtVAR_014407Diseasep.CYS121PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_006515Diseasep.CYS370PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_065370Diseasep.CYS82PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_014410Diseasep.CYS151SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_006506Diseasep.CYS238TYRFactor VII deficiency (FA7D)
Swiss-ProtVAR_015139Diseasep.CYS254TYRFactor VII deficiency (FA7D)
Swiss-ProtVAR_006502Diseasep.GLN160ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_014406Diseasep.GLU79GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_015137Diseasep.GLU154LYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_006510Diseasep.GLU325LYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_013123Polymorphismp.GLU445LYSN/A
Swiss-ProtVAR_065373Diseasep.GLU85LYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065423Diseasep.GLY425ALAFactor VII deficiency (FA7D)
Swiss-ProtVAR_065380Diseasep.GLY177ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_065387Diseasep.GLY240ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_006516Diseasep.GLY402ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_065377Diseasep.GLY138ASPFactor VII deficiency (FA7D)
Swiss-ProtVAR_015138Diseasep.GLY216ASPFactor VII deficiency (FA7D)
Swiss-ProtVAR_065426Diseasep.GLY432ASPFactor VII deficiency (FA7D)
Swiss-ProtVAR_006501Diseasep.GLY157CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065414Diseasep.GLY391CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065421Diseasep.GLY414CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065424Diseasep.GLY425CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_006517Diseasep.GLY402GLUFactor VII deficiency (FA7D)
Swiss-ProtVAR_014420Diseasep.GLY435GLUFactor VII deficiency (FA7D)
Swiss-ProtVAR_065378Diseasep.GLY156SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_006500Diseasep.GLY157SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_065402Diseasep.GLY343SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_065404Diseasep.GLY345SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_014419Diseasep.GLY391SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_014411Diseasep.GLY157VALFactor VII deficiency (FA7D)
Swiss-ProtVAR_065419Diseasep.HIS408ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_065396Diseasep.HIS301GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065418Diseasep.HIS408GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065386Diseasep.ILE198THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_065399Diseasep.LEU323ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_014405Diseasep.LEU73GLNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065398Diseasep.LEU321PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_014408Diseasep.LEU125PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_014391Diseasep.LEU13PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_065381Diseasep.LEU181PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_065392Diseasep.LEU264PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_065406Diseasep.LEU360PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_065397Diseasep.LEU314VALFactor VII deficiency (FA7D)
Swiss-ProtVAR_006504Diseasep.LYS197GLUFactor VII deficiency (FA7D)
Swiss-ProtVAR_065416Diseasep.LYS401GLUFactor VII deficiency (FA7D)
Swiss-ProtVAR_006512Diseasep.MET358ILEFactor VII deficiency (FA7D)
Swiss-ProtVAR_065411Diseasep.MET387THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_006513Diseasep.MET358VALFactor VII deficiency (FA7D)
Swiss-ProtVAR_065412Diseasep.MET387VALFactor VII deficiency (FA7D)
Swiss-ProtVAR_015135Diseasep.PHE64LEUFactor VII deficiency (FA7D)
Swiss-ProtVAR_065413Diseasep.PHE388SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_015143Diseasep.PRO363ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_065407Diseasep.PRO363HISFactor VII deficiency (FA7D)
Swiss-ProtVAR_065385Diseasep.PRO194LEUFactor VII deficiency (FA7D)
Swiss-ProtVAR_065384Diseasep.PRO189SERFactor VII deficiency (FA7D)
Swiss-ProtVAR_006503Diseasep.PRO194THRFactor VII deficiency (FA7D)
Swiss-ProtVAR_065417Diseasep.SER404ASNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065379Diseasep.SER171PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_065383Diseasep.SER186PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_065388Diseasep.SER250PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_015136Diseasep.SER120PROFactor VII deficiency (FA7D)
Swiss-ProtVAR_014413Diseasep.THR241ASNFactor VII deficiency (FA7D)
Swiss-ProtVAR_065395Diseasep.THR298ILEFactor VII deficiency (FA7D)
Swiss-ProtVAR_014418Diseasep.THR332METFactor VII deficiency (FA7D)
Swiss-ProtVAR_065410Diseasep.THR384METFactor VII deficiency (FA7D)
Swiss-ProtVAR_006519Diseasep.THR419METFactor VII deficiency (FA7D)
Swiss-ProtVAR_018671Polymorphismp.THR367SERN/A
Swiss-ProtVAR_065403Diseasep.TRP344ARGFactor VII deficiency (FA7D)
Swiss-ProtVAR_014409Diseasep.TYR128CYSFactor VII deficiency (FA7D)
Swiss-ProtVAR_065427Diseasep.TYR437PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_013936Polymorphismp.VAL295ASPN/A
Swiss-ProtVAR_015141Diseasep.VAL312METFactor VII deficiency (FA7D)
Swiss-ProtVAR_015142Diseasep.VAL341PHEFactor VII deficiency (FA7D)
Swiss-ProtVAR_065422Diseasep.VAL422PHEFactor VII deficiency (FA7D)
OMIM613878.0006 Diseasep.ALA244VALFACTOR VII DEFICIENCY
OMIM613878.0010 Diseasep.ALA294VALFACTOR VII DEFICIENCY
OMIM613878.0001 Diseasep.ARG304GLNFACTOR VII PADUA
OMIM613878.0014 Diseasep.ARG353GLNMYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
OMIM613878.0004 Diseasep.ARG247HISFACTOR VII DEFICIENCY
OMIM613878.0007 Diseasep.ASN57ASPFACTOR VII DEFICIENCY
OMIM613878.0019 Diseasep.CYS329GLYFACTOR VII DEFICIENCY
OMIM613878.0002 Diseasep.CYS310PHEFACTOR VII DEFICIENCY
OMIM613878.0018 Diseasep.CYS61TERFACTOR VII DEFICIENCY
OMIM613878.0003 Diseasep.CYS178TYRFACTOR VII DEFICIENCY
OMIM613878.0020 Diseasep.GLN211TERFACTOR VII DEFICIENCY
OMIM613878.0021 Diseasep.GLU25LYSFACTOR VII DEFICIENCY
OMIM613878.0023 Diseasep.GLY354CYSFACTOR VII DEFICIENCY
OMIM613878.0022 Diseasep.HIS348GLNFACTOR VII DEFICIENCY
OMIM613878.0024 Diseasep.PHE328SERFACTOR VII DEFICIENCY
OMIM613878.0005 Diseasep.THR359METFACTOR VII DEFICIENCY



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