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  Domain Name: alpha-1-antitrypsin_
alpha-1-antitrypsin_like. This family contains a variety of different members of clade A of the serpin superfamily. They include the classical serine proteinase inhibitors, alpha-1-antitrypsin and alpha-1-antichymotrypsin, protein C inhibitor, kallistatin, and noninhibitory serpins, like corticosteroid and thyroxin binding globulins. In general, SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate blood coagulation cascades. Non-inhibitory serpins perform many diverse functions such as chaperoning proteins or transporting hormones. Serpins are of medical interest because mutants have been associated with blood clotting disorders, emphysema, cirrhosis, and dementia.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 72
Total Disease Mutations Found: 26
This domain occurred 32 times on human genes (63 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
  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
  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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