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  Domain Name: PH
PH domain. PH stands for pleckstrin homology.

Total Mutations Found: 87
Total Disease Mutations Found: 21
This domain occurred 204 times on human genes (370 proteins).



  AARSKOG-SCOTT SYNDROME
  BREAST CANCER, SOMATIC
  CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
  COLORECTAL CANCER, SOMATIC, INCLUDED;;
  COWDEN DISEASE 6
  HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY
  LONG QT SYNDROME 12
  LYMPHOPROLIFERATIVE SYNDROME 1
  MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME,
  MYOPATHY, CENTRONUCLEAR, 1
  OVARIAN CANCER, SOMATIC, INCLUDED;;
  PROTEUS SYNDROME, S
  RECLASSIFIED - VARIANT OF UNKOWN SIGNIFICANCE
  SOMATIC


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:  


No Conserved Features/Sites Found for PH












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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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