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  Domain Name: PH
Pleckstrin homology domain. Domain commonly found in eukaryotic signalling proteins. The domain family possesses multiple functions including the abilities to bind inositol phosphates, and various proteins. PH domains have been found to possess inserted domains (such as in PLC gamma, syntrophins) and to be inserted within other domains. Mutations in Brutons tyrosine kinase (Btk) within its PH domain cause X-linked agammaglobulinaemia (XLA) in patients. Point mutations cluster into the positively charged end of the molecule around the predicted binding site for phosphatidylinositol lipids.

Total Mutations Found: 158
Total Disease Mutations Found: 75
This domain occurred 250 times on human genes (519 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
  DIABETES MELLITUS, NON-INSULIN-DEPENDENT (NIDDM)
  ERYTHROCYTOSIS, SOMATIC
  HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY
  LYMPHOPROLIFERATIVE SYNDROME 1
  MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME (MPPH)
  MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME,
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
  MYOPATHY, CENTRONUCLEAR, 1
  OVARIAN CANCER, SOMATIC, INCLUDED;;
  PROTEUS SYNDROME, S
  RECLASSIFIED - VARIANT OF UNKOWN SIGNIFICANCE
  SOMATIC
  THROMBOCYTHEMIA, SOMATIC
  VARIANT OF UNKNOWN SIGNIFICANCE
  X-LINKED AGAMMAGLOBULINEMIA (XLA)


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Range on the Protein:  

   Protein ID            Protein Position