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  Domain Name: COG4172
ABC-type uncharacterized transport system, duplicated ATPase component [General function prediction only]
No pairwise interactions found for the domain COG4172

Total Mutations Found: 107
Total Disease Mutations Found: 45
This domain occurred 23 times on human genes (49 proteins).



  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CARDIOMYOPATHY, DILATED, 1O
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  PSEUDOXANTHOMA ELASTICUM
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TAP1 DEFICIENCY, SOMATIC


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG4172



















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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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