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  Domain Name: CBS
CBS domain. CBS domains are small intracellular modules that pair together to form a stable globular domain. This family represents a single CBS domain. Pairs of these domains have been termed a Bateman domain. CBS domains have been shown to bind ligands with an adenosyl group such as AMP, ATP and S-AdoMet. CBS domains are found attached to a wide range of other protein domains suggesting that CBS domains may play a regulatory role making proteins sensitive to adenosyl carrying ligands. The region containing the CBS domains in Cystathionine-beta synthase is involved in regulation by S-AdoMet. CBS domain pairs from AMPK bind AMP or ATP. The CBS domains from IMPDH and the chloride channel CLC2 bind ATP.
No pairwise interactions found for the domain CBS

Total Mutations Found: 53
Total Disease Mutations Found: 46
This domain occurred 14 times on human genes (34 proteins).



  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6
  GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
  LEBER CONGENITAL AMAUROSIS 11
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
  RETINITIS PIGMENTOSA 10
  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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