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  Domain Name: Tryp_SPc
Trypsin-like serine protease. Many of these are synthesised as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. A few, however, are active as single chain molecules, and others are inactive due to substitutions of the catalytic triad residues.
No pairwise interactions found for the domain Tryp_SPc

Total Mutations Found: 245
Total Disease Mutations Found: 115
This domain occurred 116 times on human genes (222 proteins).



  3MC SYNDROME 1
  AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
  ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO
  C1S DEFICIENCY
  CAROTID STENOSIS, SUSCEPTIBILITY TO, INCLUDED;;
  COMPLEMENT FACTOR D DEFICIENCY
  COMPLEMENT FACTOR I DEFICIENCY
  CYCLIC NEUTROPENIA
  DEAFNESS, AUTOSOMAL RECESSIVE 8
  DYSPLASMINOGENEMIA
  DYSPROTHROMBINEMIA
  DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
  FACTOR VII DEFICIENCY
  FACTOR VII PADUA
  FACTOR VII-ACTIVATING PROTEASE MARBURG I
  FACTOR X DEFICIENCY
  FACTOR X DEFICIENCY, AUTOSOMAL DOMINANT
  FACTOR XI DEFICIENCY
  FACTOR XII (WASHINGTON D.C.)
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
  ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
  IRON-REFRACTORY IRON DEFICIENCY ANEMIA
  MICROPHTHALMIA, ISOLATED 6
  MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO
  NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
  PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
  PANCREATITIS, HEREDITARY
  PLASMINOGEN DEFICIENCY, TYPE I
  PREKALLIKREIN DEFICIENCY
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
  THROMBOPHILIA DUE TO THROMBIN DEFECT
  VENOUS THROMBOEMBOLISM, SUSCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Tryp_SPc




















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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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