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  Domain Name: Ins145_P3_rec
Inositol 1,4,5-trisphosphate/ryanodine receptor. This domain corresponds to the ligand binding region on inositol 1,4,5-trisphosphate receptor, and the N terminal region of the ryanodine receptor. Both receptors are involved in Ca2+ release. They can couple to the activation of neurotransmitter-gated receptors and voltage-gated Ca2+ channels on the plasma membrane, thus allowing the endoplasmic reticulum discriminate between different types of neuronal activity.
No pairwise interactions found for the domain Ins145_P3_rec

Total Mutations Found: 156
Total Disease Mutations Found: 119
This domain occurred 6 times on human genes (16 proteins).



  CENTRAL CORE DISEASE OF MUSCLE (CCD)
  CENTRAL CORE DISEASE, INCLUDED
  KING-DENBOROUGH SYNDROME
  MALIGNANT HYPERTHERMIA 1 (MHS1)
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
  MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA (MMDO)
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (CFTD)
  SPINOCEREBELLAR ATAXIA 15 (SCA15)
  SPINOCEREBELLAR ATAXIA 29 (SCA29)
  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPA


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ins145_P3_rec











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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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