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  Domain Name: COG4826
Serine protease inhibitor [Posttranslational modification, protein turnover, chaperones]
No pairwise interactions found for the domain COG4826

Total Mutations Found: 88
Total Disease Mutations Found: 32
This domain occurred 30 times on human genes (60 proteins).



  ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
  ANGIOEDEMA, HEREDITARY, TYPE I
  ANGIOEDEMA, HEREDITARY, TYPE II
  ANTICHYMOTRYPSIN BOCHUM 1
  ANTICHYMOTRYPSIN BONN 1
  ANTICHYMOTRYPSIN ISEHARA 1
  C1 INHIBITOR
  COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL
  CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (CBG DEFICIENCY)
  DEAFNESS, AUTOSOMAL RECESSIVE 91
  ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES
  HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO
  IGA NEPHROPATHY, PROGRESSION TO
  OSTEOGENESIS IMPERFECTA, TYPE VI
  OSTEOGENESIS IMPERFECTA, TYPE X
  PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
  PREECLAMPSIA, SUSCEPTIBILITY TO, INCLUDED;;
  RENAL TUBULAR DYSGENESIS
  THYROXINE-BINDING GLOBULIN DEFICIENCY (TBG DEFICIENCY)
  VENOUS THROMBOSIS, SUSCEPTIBILITY TO


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG4826
















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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