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  Domain Name: COG0517
FOG: CBS domain [General function prediction only]
No pairwise interactions found for the domain COG0517

Total Mutations Found: 58
Total Disease Mutations Found: 54
This domain occurred 9 times on human genes (25 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
  GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  LEBER CONGENITAL AMAUROSIS 11
  NEPHROLITHIASIS, X-LINKED RECESSIVE
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
  RETINITIS PIGMENTOSA 10
  WOLFF-PARKINSON-WHITE SYNDROME
  WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG0517

















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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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