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  Domain Name: ADA_AMPD
Adenosine/AMP deaminase. Adenosine deaminases (ADAs) are present in pro- and eukaryotic organisms and catalyze the zinc dependent irreversible deamination of adenosine nucleosides to inosine nucleosides and ammonia. The eukaryotic AMP deaminase catalyzes a similar reaction leading to the hydrolytic removal of an amino group at the 6 position of the adenine nucleotide ring, a branch point in the adenylate catabolic pathway.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 32
Total Disease Mutations Found: 27
This domain occurred 6 times on human genes (20 proteins).



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


Tips:
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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:
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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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