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  Domain Name: antithrombin-III_lik
Antithrombin is a serine proteinase inhibitor (serpin) which controls the process of coagulation. It is the most important anticoagulant molecule in mammalian circulation systems, controlled by its interaction with the co-factor, heparin, which accelerates its interaction with target proteases, such as thrombin and factor Xa. This subgroup corresponds to clade C of the serpin superfamily.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 68
Total Disease Mutations Found: 23
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
  DEAFNESS, AUTOSOMAL RECESSIVE 91
  ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES
  OSTEOGENESIS IMPERFECTA, TYPE VI
  OSTEOGENESIS IMPERFECTA, TYPE X
  PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
  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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