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  Domain Name: COG4230
Delta 1-pyrroline-5-carboxylate dehydrogenase [Energy production and conversion]
No pairwise interactions found for the domain COG4230

Total Mutations Found: 52
Total Disease Mutations Found: 25
This domain occurred 13 times on human genes (21 proteins).



  ALCOHOL DEPENDENCE, PROTECTION AGAINST, INCLUDED;;
  ALCOHOL SENSITIVITY, ACUTE
  EPILEPSY, PYRIDOXINE-DEPENDENT
  HANGOVER, SUSCEPTIBILITY TO, INCLUDED;;|
  HYPERPROLINEMIA, TYPE II
  METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (MMSDHD)
  MICROPHTHALMIA, ISOLATED 8
  MICROPHTHALMIA, ISOLATED, 8 (MCOP8)
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
  SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (SSADHD)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG4230


























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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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