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Results for the Protein: NP_000500
70906437
FGG

fibrinogen gamma chain isoform gamma-A precursor [Homo sapiens]

Known Diseases associated with this Protein:
  FIBRINOGE
  FIBRINOGEN ALES
  FIBRINOGEN ASAHI
  FIBRINOGEN BALTIMORE 1
  FIBRINOGEN BALTIMORE 3
  FIBRINOGEN BALTIMORE 4
  FIBRINOGEN BERGAMO 2
  FIBRINOGEN ESSEN 1;;
  FIBRINOGEN GIESSEN 4
  FIBRINOGEN HAIFA 1;;
  FIBRINOGEN HILLSBOROUGH
  FIBRINOGEN KYOTO 1
  FIBRINOGEN KYOTO 3
  FIBRINOGEN MATSUMOTO 1
  FIBRINOGEN MILANO 1
  FIBRINOGEN MILANO XII, DIGENIC
  FIBRINOGEN MORIOKA 1;;
  FIBRINOGEN NAGOYA 1
  FIBRINOGEN OSAKA 2;;
  FIBRINOGEN OSAKA 5
  FIBRINOGEN PERUGIA 1;;
  FIBRINOGEN SAGA 1;;
  FIBRINOGEN TOCHIGI 1;;
  FIBRINOGEN TOKYO 2
  THROMBOPHILIA, DYSFIBRINOGENEMIC;;
14
2
14
2
0
Tips:
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Default View:

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


RefSeq Protein: NP_000500
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Fibrinogen_Cpfam001477e-158175415
Fib_alphapfam087021.5e-7129173
FBGsmart001861.6e-140175415

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6063 Polymorphismp.GLY191ARGN/A
dbSNPrs2066870 Polymorphismp.TYR140HISN/A
OMIM134850.0001 Diseasep.ARG275CYSFIBRINOGEN BALTIMORE 4||FIBRINOGEN MORIOKA 1;;||FIBRINOGEN OSAKA 2;;||FIBRINOGEN TOCHIGI 1;;||FIBRINOGEN TOKYO 2
OMIM134850.0015 Diseasep.ARG318GLYFIBRINOGEN GIESSEN 4
OMIM134850.0013 Diseasep.ARG375GLYFIBRINOGEN OSAKA 5
OMIM134850.0002 Diseasep.ARG275HISFIBRINOGEN BERGAMO 2||FIBRINOGEN ESSEN 1;;||FIBRINOGEN HAIFA 1;;||FIBRINOGEN PERUGIA 1;;||FIBRINOGEN SAGA 1;;||FIBRINOGE
OMIM134850.0005 Diseasep.ASN308ILEFIBRINOGEN BALTIMORE 3
OMIM134850.0004 Diseasep.ASN308LYSFIBRINOGEN KYOTO 1
OMIM134850.0014 Diseasep.ASP364HISFIBRINOGEN MATSUMOTO 1
OMIM134850.0009 Diseasep.ASP330TYRFIBRINOGEN KYOTO 3
OMIM134850.0010 Diseasep.ASP330VALFIBRINOGEN MILANO 1||THROMBOPHILIA, DYSFIBRINOGENEMIC;;||FIBRINOGEN ALES
OMIM134850.0008 Diseasep.GLN329ARGFIBRINOGEN NAGOYA 1
OMIM134850.0018 Diseasep.GLY165ARGFIBRINOGEN MILANO XII, DIGENIC
OMIM134850.0019 Diseasep.GLY309ASPFIBRINOGEN HILLSBOROUGH
OMIM134850.0003 Diseasep.GLY292VALFIBRINOGEN BALTIMORE 1
OMIM134850.0006 Diseasep.MET310THRFIBRINOGEN ASAHI



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