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Results for the Protein: NP_062562
10518503
F7

coagulation factor VII isoform b preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  FACTOR VII DEFICIENCY
  FACTOR VII PADUA
  MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
15
1
15
1
0
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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


RefSeq Protein: NP_062562
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGFcd000538.2e-1087120
Tryp_SPccd001904.5e-94191428
Glapfam005947.8e-194384
EGFpfam000087.6e-0688118
Trypsinpfam000891.1e-63191425
GLAsmart000697.9e-352083
EGF_CAsmart001791.1e-0984120
EGFsmart001818.4e-0887120
Tryp_SPcsmart000201.7e-94190425

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6046 Polymorphismp.ARG391GLNN/A
OMIM613878.0006 Diseasep.ALA222VALFACTOR VII DEFICIENCY
OMIM613878.0010 Diseasep.ALA272VALFACTOR VII DEFICIENCY
OMIM613878.0001 Diseasep.ARG282GLNFACTOR VII PADUA
OMIM613878.0014 Diseasep.ARG331GLNMYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
OMIM613878.0004 Diseasep.ARG225HISFACTOR VII DEFICIENCY
OMIM613878.0007 Diseasep.ASN35ASPFACTOR VII DEFICIENCY
OMIM613878.0019 Diseasep.CYS307GLYFACTOR VII DEFICIENCY
OMIM613878.0002 Diseasep.CYS288PHEFACTOR VII DEFICIENCY
OMIM613878.0018 Diseasep.CYS39TERFACTOR VII DEFICIENCY
OMIM613878.0003 Diseasep.CYS156TYRFACTOR VII DEFICIENCY
OMIM613878.0020 Diseasep.GLN189TERFACTOR VII DEFICIENCY
OMIM613878.0023 Diseasep.GLY332CYSFACTOR VII DEFICIENCY
OMIM613878.0022 Diseasep.HIS326GLNFACTOR VII DEFICIENCY
OMIM613878.0024 Diseasep.PHE306SERFACTOR VII DEFICIENCY
OMIM613878.0005 Diseasep.THR337METFACTOR VII DEFICIENCY



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