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  Domain Name: COG4221
Short-chain alcohol dehydrogenase of unknown specificity [General function prediction only]
No pairwise interactions found for the domain COG4221

Total Mutations Found: 94
Total Disease Mutations Found: 47
This domain occurred 50 times on human genes (81 proteins).



  17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
  17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
  APPARENT MINERALOCORTICOID EXCESS
  APPARENT MINERALOCORTICOID EXCESS, MILD
  CORTISONE REDUCTASE DEFICIENCY 2
  CRANIOOSTEOARTHROPATHY
  D-BIFUNCTIONAL PROTEIN DEFICIENCY
  D-BIFUNCTIONAL PROTEIN DEFICIENCY (DBPD)
  DIGITAL CLUBBING, ISOLATED CONGENITAL
  DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
  DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (DRDSPRD)
  ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
  FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
  LEBER CONGENITAL AMAUROSIS 13
  MENTAL RETARDATION, X-LINKED, SYNDROMIC 10
  PERRAULT SYNDROME 1
  PERRAULT SYNDROME 1 (PRLTS1)
  RETINITIS PIGMENTOSA 53


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG4221












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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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