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Results for the Protein: P02671
1706799
FGA

FIBA_HUMAN RecName: Full=Fibrinogen alpha chain; Contains: RecName: Full=Fibrinopeptide A; Contains: RecName: Full=Fibrinogen alpha chain; Flags: Precursor

Known Diseases associated with this Protein:
  
  AMYLOIDOSIS 8 (AMYL8)
  AMYLOIDOSIS, FAMILIAL VISCERAL
  DYSFIBRINOGENEMIA CAUSING BLEEDING DIATHESIS
  FIBRINO
  FIBRINOGEN AARHUS 1
  FIBRINOGEN AMIENS 1
  FIBRINOGEN AMIENS 2;;
  FIBRINOGEN BERGAMO 1
  FIBRINOGEN BERGAMO 3;;
  FIBRINOGEN BERN 2;;
  FIBRINOGEN BICETRE 1;;
  FIBRINOGEN CANTERBURY
  FIBRINOGEN CARACAS-2
  FIBRINOGEN DETROIT 1
  FIBRINOGEN DUSART
  FIBRINOGEN HERSHEY 2;;
  FIBRINOGEN HOMBURG 2;;
  FIBRINOGEN HOMBURG 3;;
  FIBRINOGEN KAWAGUCHI 1;;
  FIBRINOGEN KEOKUK
  FIBRINOGEN KYOTO 2
  FIBRINOGEN LILLE 1
  FIBRINOGEN LIMA
  FIBRINOGEN MARBURG
  FIBRINOGEN MUNICH 1
  FIBRINOGEN PARIS 5
  FIBRINOGEN ROUEN 1
  VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO
19
17
17
2
17
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Default View:

Fib_alpha - pfam08702
Fibrinogen_aC - pfam12160
FBG - smart00186


Swiss-Prot Protein: P02671
Identical to: NP_000499
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Fibrinogen_aCpfam121601e-34445510
FBGsmart001868.4e-130628863

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002395Polymorphismp.ARG38ASNN/A
Swiss-ProtVAR_002392Polymorphismp.ARG35CYSN/A
Swiss-ProtVAR_002401Polymorphismp.ARG573CYSN/A
Swiss-ProtVAR_002397Polymorphismp.ARG38GLYN/A
Swiss-ProtVAR_002393Polymorphismp.ARG35HISN/A
Swiss-ProtVAR_010732Diseasep.ARG573LEUAmyloidosis 8 (AMYL8)
Swiss-ProtVAR_002399Polymorphismp.ARG160SERN/A
Swiss-ProtVAR_002396Polymorphismp.ARG38SERN/A
Swiss-ProtVAR_002390Polymorphismp.ASP26ASNN/A
Swiss-ProtVAR_010731Diseasep.GLU545VALAmyloidosis 8 (AMYL8)
Swiss-ProtVAR_002391Polymorphismp.GLY31VALN/A
dbSNPrs2070025 Polymorphismp.ILE6VALN/A
Swiss-ProtVAR_014168Polymorphismp.LYS446GLUN/A
Swiss-ProtVAR_002394Polymorphismp.PRO37LEUN/A
Swiss-ProtVAR_002400Polymorphismp.SER453ASNN/A
Swiss-ProtVAR_002398Polymorphismp.SER66THRN/A
dbSNPrs6050 Polymorphismp.THR331ALAN/A
Swiss-ProtVAR_011611Polymorphismp.THR456ALAN/A
Swiss-ProtVAR_010730Polymorphismp.VAL39ASPN/A
OMIM134820.0005 Diseasep.ARG19ASNFIBRINOGEN MUNICH 1
OMIM134820.0003 Diseasep.ARG16CYSFIBRINOGEN BERGAMO 1||FIBRINOGEN HERSHEY 2;;||FIBRINOGEN HOMBURG 2;;||FIBRINOGEN HOMBURG 3;;||FIBRINOGEN KAWAGUCHI 1;;||
OMIM134820.0014 Diseasep.ARG554CYSFIBRINOGEN DUSART||FIBRINOGEN PARIS 5
OMIM134820.0007 Diseasep.ARG19GLYFIBRINOGEN AARHUS 1
OMIM134820.0004 Diseasep.ARG16HISFIBRINOGEN AMIENS 1||FIBRINOGEN AMIENS 2;;||FIBRINOGEN BERGAMO 3;;||FIBRINOGEN BERN 2;;||FIBRINOGEN BICETRE 1;;||FIBRINO
OMIM134820.0012 Diseasep.ARG554LEUAMYLOIDOSIS, FAMILIAL VISCERAL
OMIM134820.0010 Diseasep.ARG141SERFIBRINOGEN LIMA
OMIM134820.0006 Diseasep.ARG19SERFIBRINOGEN DETROIT 1
OMIM134820.0001 Diseasep.ASP7ASNFIBRINOGEN LILLE 1
OMIM134820.0024 Diseasep.GLN328TERFIBRINOGEN KEOKUK
OMIM134820.0013 Diseasep.GLU526VALAMYLOIDOSIS, FAMILIAL VISCERAL
OMIM134820.0002 Diseasep.GLY12VALFIBRINOGEN ROUEN 1
OMIM134820.0011 Diseasep.LYS461TERFIBRINOGEN MARBURG||DYSFIBRINOGENEMIA CAUSING BLEEDING DIATHESIS
OMIM134820.0008 Diseasep.PRO18LEUFIBRINOGEN KYOTO 2
OMIM134820.0009 Diseasep.SER434ASNFIBRINOGEN CARACAS-2
OMIM134820.0026 Diseasep.THR312ALAVENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO
OMIM134820.0015 Diseasep.VAL20ASPFIBRINOGEN CANTERBURY



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