Home News About DMDM Database Statistics Research Publications Contact  

 
Click for a Larger Image
  Domain Name: Trypsin
Trypsin.

Total Mutations Found: 194
Total Disease Mutations Found: 90
This domain occurred 102 times on human genes (180 proteins).



  3MC SYNDROME 1
  AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
  AND LEUKOENCEPHALOPATHY
  ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO
  C1S DEFICIENCY
  CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS
  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


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Trypsin














Weblogos are Copyright (c) 2002 Regents of the University of California




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.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258