Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P02675
399492
FGB

FIBB_HUMAN RecName: Full=Fibrinogen beta chain; Contains: RecName: Full=Fibrinopeptide B; Contains: RecName: Full=Fibrinogen beta chain; Flags: Precursor

Known Diseases associated with this Protein:
  AFIBRINOGENEMIA, CONGENITAL
  CONGENITAL AFIBRINOGENEMIA (CAFBN)
  FIBRINOGEN BALTIMORE 2
  FIBRINOGEN CHRISTCHURCH 2
  FIBRINOGEN IJMUIDEN
  FIBRINOGEN ISE
  FIBRINOGEN LONGMONT
  FIBRINOGEN MILANO 2;;
  FIBRINOGEN NAPLES
  FIBRINOGEN NIJMEGEN
  FIBRINOGEN PONTOISE 2
  FIBRINOGEN SEATTLE 1;;
  HYPOFIBRINOGENEMIA, CONGENITAL
  THROMBOPHILIA, DYSFIBRINOGENEMIC
14
10
11
1
12
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Fib_alpha - pfam08702
FBG - smart00186


Swiss-Prot Protein: P02675
Identical to: NP_005132
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FBGsmart001863.8e-151237487

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002407Polymorphismp.ALA365THRN/A
Swiss-ProtVAR_002406Polymorphismp.ALA98THRN/A
Swiss-ProtVAR_016908Diseasep.ARG196CYSCongenital afibrinogenemia (CAFBN)
Swiss-ProtVAR_002403Polymorphismp.ARG44CYSN/A
Swiss-ProtVAR_002405Polymorphismp.ARG74CYSN/A
dbSNPrs4220 Polymorphismp.ARG478LYSN/A
Swiss-ProtVAR_013092Polymorphismp.ASN170HISN/A
Swiss-ProtVAR_002404Polymorphismp.GLY45ARGN/A
Swiss-ProtVAR_016910Diseasep.GLY430ASPCongenital afibrinogenemia (CAFBN)
Swiss-ProtVAR_016909Diseasep.LEU383ARGCongenital afibrinogenemia (CAFBN)
Swiss-ProtVAR_014169Polymorphismp.LYS2GLUN/A
Swiss-ProtVAR_013093Polymorphismp.PRO265LEUN/A
Swiss-ProtVAR_013091Polymorphismp.PRO100SERN/A
OMIM134830.0003 Diseasep.ALA335THRFIBRINOGEN PONTOISE 2
OMIM134830.0007 Diseasep.ALA68THRFIBRINOGEN NAPLES||FIBRINOGEN MILANO 2;;||THROMBOPHILIA, DYSFIBRINOGENEMIC
OMIM134830.0002 Diseasep.ARG14CYSFIBRINOGEN CHRISTCHURCH 2||FIBRINOGEN SEATTLE 1;;||FIBRINOGEN IJmuiden
OMIM134830.0011 Diseasep.ARG166CYSFIBRINOGEN LONGMONT
OMIM134830.0006 Diseasep.ARG44CYSFIBRINOGEN NIJMEGEN
OMIM134830.0004 Diseasep.ARG448LYSFIBRINOGEN BALTIMORE 2
OMIM134830.0016 Diseasep.ARG17TERHYPOFIBRINOGENEMIA, CONGENITAL
OMIM134830.0010 Diseasep.GLY400ASPAFIBRINOGENEMIA, CONGENITAL
OMIM134830.0005 Diseasep.GLY15CYSFIBRINOGEN ISE
OMIM134830.0009 Diseasep.LEU353ARGAFIBRINOGENEMIA, CONGENITAL
OMIM134830.0015 Diseasep.LEU172GLNHYPOFIBRINOGENEMIA, CONGENITAL



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258