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  Domain Name: CBS
Domain in cystathionine beta-synthase and other proteins. Domain present in all 3 forms of cellular life. Present in two copies in inosine monophosphate dehydrogenase, of which one is disordered in the crystal structure. A number of disease states are associated with CBS-containing proteins including homocystinuria, Becker's and Thomsen disease.
No pairwise interactions found for the domain CBS

Total Mutations Found: 53
Total Disease Mutations Found: 43
This domain occurred 13 times on human genes (44 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED
  GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
  HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
  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 CBS







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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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