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  Domain Name: Tryp_SPc
Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad residues.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 196
Total Disease Mutations Found: 86
This domain occurred 102 times on human genes (179 proteins).



  3MC SYNDROME 1
  AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
  ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO
  C1S DEFICIENCY
  COMPLEMENT FACTOR D DEFICIENCY
  COMPLEMENT FACTOR I DEFICIENCY
  CYCLIC NEUTROPENIA
  DEAFNESS, AUTOSOMAL RECESSIVE 8
  FACTOR VII DEFICIENCY
  FACTOR VII PADUA
  FACTOR XII (WASHINGTON D.C.)
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
  ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
  IRON-REFRACTORY IRON DEFICIENCY ANEMIA
  MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
  NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
  PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
  PANCREATITIS, HEREDITARY
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
active site
substrate binding sites



















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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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