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  Domain Name: PDZ_signaling
PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. In this subfamily of PDZ domains an N-terminal beta-strand forms the peptide-binding groove base, a circular permutation with respect to PDZ domains found in proteases.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 74
Total Disease Mutations Found: 12
This domain occurred 124 times on human genes (250 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
  PARKINSON DISEASE 13, AUTOSOMAL DOMINANT
  USHER SYNDROME, TYPE IC


Tips:
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 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:  


Feature Name:Total Found:
protein binding site













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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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