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  Domain Name: COG1123
ATPase components of various ABC-type transport systems, contain duplicated ATPase [General function prediction only]
No pairwise interactions found for the domain COG1123

Total Mutations Found: 198
Total Disease Mutations Found: 103
This domain occurred 43 times on human genes (93 proteins).



  ADDISON DISEASE
  ADRENOLEUKODYSTROPHY
  ADRENOMYELONEUROPATHY
  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  CARDIOMYOPATHY, DILATED, 1O
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2, INCLUDED
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CONE-ROD DYSTROPHY 3
  CONE-ROD DYSTROPHY 3, INCLUDED
  CYSTIC FIBROSIS
  DUBIN-JOHNSON SYNDROME
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  PSEUDOXANTHOMA ELASTICUM
  STARGARDT DISEASE 1
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC
  URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG1123

























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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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