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  Domain Name: HCII
Heparin cofactor II (HCII) inhibits thrombin, the final protease of the coagulation cascade. HCII is allosterically activated by binding to cell surface glycosaminoglycans (GAGs). The specificity of HCII for thrombin is conferred by a highly acidic hirudin-like N-terminal tail, which becomes available after GAG binding for interaction with the anion-binding exosite I of thrombin. This subgroup corresponds to clade D of the serpin superfamily.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 81
Total Disease Mutations Found: 29
This domain occurred 31 times on human genes (62 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:  


Feature Name:Total Found:
reactive center loop



















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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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