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  Domain Name: COG4178
ABC-type uncharacterized transport system, permease and ATPase components [General function prediction only]
No pairwise interactions found for the domain COG4178

Total Mutations Found: 126
Total Disease Mutations Found: 51
This domain occurred 18 times on human genes (38 proteins).



  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  COLCHICINE RESISTANCE
  DUBIN-JOHNSON SYNDROME
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1 (GBD1)
  GALLBLADDER DISEASE 1, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLJ (MAHCJ)
  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  PSEUDOXANTHOMA ELASTICUM
  TAP1 DEFICIENCY, SOMATIC


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG4178





























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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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