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Results for the Protein: NP_001171670
296080754
FGB

fibrinogen beta chain isoform 2 preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  AFIBRINOGENEMIA, CONGENITAL
  FIBRINOGEN BALTIMORE 2
  FIBRINOGEN CHRISTCHURCH 2
  FIBRINOGEN IJMUIDEN
  FIBRINOGEN ISE
  FIBRINOGEN LONGMONT
  FIBRINOGEN NIJMEGEN
  FIBRINOGEN PONTOISE 2
  FIBRINOGEN SEATTLE 1;;
  HYPOFIBRINOGENEMIA, CONGENITAL
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Default View:

Fib_alpha - pfam08702
FReD - cd00087
FBG - smart00186
Fibrinogen_C - pfam00147




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Fibrinogen_Cpfam001479.4e-187178428
Fib_alphapfam087022.8e-2751176
FBGsmart001863.8e-151178428

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4220 Polymorphismp.ARG419LYSN/A
OMIM134830.0003 Diseasep.ALA276THRFIBRINOGEN PONTOISE 2
OMIM134830.0011 Diseasep.ARG107CYSFIBRINOGEN LONGMONT
OMIM134830.0002 Diseasep.ARG14CYSFIBRINOGEN CHRISTCHURCH 2||FIBRINOGEN SEATTLE 1;;||FIBRINOGEN IJmuiden
OMIM134830.0006 Diseasep.ARG44CYSFIBRINOGEN NIJMEGEN
OMIM134830.0004 Diseasep.ARG389LYSFIBRINOGEN BALTIMORE 2
OMIM134830.0016 Diseasep.ARG17TERHYPOFIBRINOGENEMIA, CONGENITAL
OMIM134830.0010 Diseasep.GLY341ASPAFIBRINOGENEMIA, CONGENITAL
OMIM134830.0005 Diseasep.GLY15CYSFIBRINOGEN ISE
OMIM134830.0009 Diseasep.LEU294ARGAFIBRINOGENEMIA, CONGENITAL
OMIM134830.0015 Diseasep.LEU113GLNHYPOFIBRINOGENEMIA, CONGENITAL



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