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  Domain Name: ADA
Adenosine deaminase (ADA) is a monomeric zinc dependent enzyme which catalyzes the irreversible hydrolytic deamination of both adenosine, as well as desoxyadenosine, to ammonia and inosine or desoxyinosine, respectively. ADA plays an important role in the purine pathway. Low, as well as high levels of ADA activity have been linked to several diseases.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 32
Total Disease Mutations Found: 28
This domain occurred 3 times on human genes (11 proteins).



  ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
  B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-NEGATIVE DUE TO ADENOSINE D
  SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,


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 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:  


Feature Name:Total Found:
active site
purine riboside binding s


















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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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