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  Domain Name: PDZ
Domain present in PSD-95, Dlg, and ZO-1/2. Also called DHR (Dlg homologous region) or GLGF (relatively well conserved tetrapeptide in these domains). Some PDZs have been shown to bind C-terminal polypeptides; others appear to bind internal (non-C-terminal) polypeptides. Different PDZs possess different binding specificities.

Total Mutations Found: 112
Total Disease Mutations Found: 15
This domain occurred 147 times on human genes (323 proteins).



  AND LEUKOENCEPHALOPATHY
  CARDIOMYOPATHY, DILATED 1C (CMD1C)
  CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS
  DEAFNESS, AUTOSOMAL RECESSIVE 15
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
  MENTAL RETARDATION, X-LINKED 90
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, STOCCO DOS SANTOS TYPE (SDSX)
  NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
  PARKINSON DISEASE 13, AUTOSOMAL DOMINANT
  USHER SYNDROME, TYPE IC


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for PDZ