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Results for the Protein: P00748
317373446
F12

FA12_HUMAN RecName: Full=Coagulation factor XII; AltName: Full=Hageman factor; Short=HAF; Contains: RecName: Full=Coagulation factor XIIa heavy chain; Contains: RecName: Full=Beta-factor XIIa part 1; Contains: RecName: Full=Beta-factor XIIa part 2; Contains: RecName: Full=Coagulation factor XIIa light chain; Flags: Precursor

Known Diseases associated with this Protein:
  ANGIOEDEMA, HEREDITARY, TYPE III
  FACTOR XII (LOCARNO)
  FACTOR XII (TENRI)
  FACTOR XII (WASHINGTON D.C.)
  FACTOR XII DEFICIENCY (FA12D)
  HEREDITARY ANGIOEDEMA 3 (HAE3)
18
6
5
1
18
Tips:
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Default View:

FN2 - smart00059
FN2 - cd00062
fn2 - pfam00040
EGF_CA - cd00054
EGF_CA - smart00179
EGF - smart00181
EGF - cd00053
EGF - pfam00008
FN1 - cd00061
FN1 - smart00058
fn1 - pfam00039
KR - cd00108
KR - smart00130
Kringle - pfam00051
Tryp_SPc - smart00020
Trypsin - pfam00089
Tryp_SPc - cd00190


Swiss-Prot Protein: P00748
Identical to: NP_000496
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FN2cd000622e-284188
EGF_CAcd000542e-0794131
EGFcd000539.1e-0897131
FN1cd000612.3e-16133173
EGFcd000537.6e-08177210
KRcd001088.8e-35214296
Tryp_SPccd001902.5e-98373612
fn2pfam000401.2e-244788
EGFpfam000082.5e-0698129
fn1pfam000398.1e-12135170
EGFpfam000081.5e-08178208
Kringlepfam000517e-44217295
Trypsinpfam000892.6e-78373609
FN2smart000593.4e-294088
EGF_CAsmart001790.0003995131
EGFsmart001812.4e-0697131
FN1smart000581.5e-10135175
EGFsmart001814.8e-07177210
KRsmart001304.5e-33215297
Tryp_SPcsmart000202.8e-97372609

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_033649Polymorphismp.ALA340GLYN/A
Swiss-ProtVAR_014336Polymorphismp.ALA207PRON/A
Swiss-ProtVAR_031503Diseasep.ALA411THRFactor XII deficiency (FA12D)
Swiss-ProtVAR_031505Diseasep.ARG417GLNFactor XII deficiency (FA12D)
Swiss-ProtVAR_031500Diseasep.ARG142PROFactor XII deficiency (FA12D)
Swiss-ProtVAR_006623Diseasep.ARG372PROFactor XII deficiency (FA12D)
Swiss-ProtVAR_031507Diseasep.ASP461ASNFactor XII deficiency (FA12D)
Swiss-ProtVAR_006624Diseasep.CYS590SERFactor XII deficiency (FA12D)
Swiss-ProtVAR_031506Diseasep.GLN440LYSFactor XII deficiency (FA12D)
Swiss-ProtVAR_031509Diseasep.GLY589ARGFactor XII deficiency (FA12D)
Swiss-ProtVAR_014337Polymorphismp.GLY545ASPN/A
Swiss-ProtVAR_031504Diseasep.LEU414METFactor XII deficiency (FA12D)
Swiss-ProtVAR_029191Polymorphismp.PRO342GLNN/A
dbSNPrs2230939 Polymorphismp.PRO342LEUN/A
Swiss-ProtVAR_031502Diseasep.THR328ARGHereditary angioedema 3 (HAE3)
Swiss-ProtVAR_031501Diseasep.THR328LYSHereditary angioedema 3 (HAE3)
Swiss-ProtVAR_031508Diseasep.TRP505CYSFactor XII deficiency (FA12D)
Swiss-ProtVAR_014426Diseasep.TYR53CYSFactor XII deficiency (FA12D)
Swiss-ProtVAR_014338Polymorphismp.TYR605HISN/A
OMIM610619.0002 Diseasep.ARG353PROFACTOR XII (LOCARNO)
OMIM610619.0001 Diseasep.CYS571SERFACTOR XII (WASHINGTON D.C.)
OMIM610619.0007 Diseasep.THR309ARGANGIOEDEMA, HEREDITARY, TYPE III
OMIM610619.0006 Diseasep.THR309LYSANGIOEDEMA, HEREDITARY, TYPE III
OMIM610619.0005 Diseasep.TYR34CYSFACTOR XII (TENRI)



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