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  Domain Name: PDZ
PDZ domain (Also known as DHR or GLGF). PDZ domains are found in diverse signaling proteins.

Total Mutations Found: 54
Total Disease Mutations Found: 9
This domain occurred 109 times on human genes (218 proteins).



  CARDIOMYOPATHY, DILATED 1C (CMD1C)
  DEAFNESS, AUTOSOMAL RECESSIVE 15
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
  MENTAL RETARDATION, X-LINKED 90
  NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
  USHER SYNDROME, TYPE IC


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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:  


No Conserved Features/Sites Found for PDZ







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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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