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  Domain Name: ABC_membrane
ABC transporter transmembrane region. This family represents a unit of six transmembrane helices. Many members of the ABC transporter family (pfam00005) have two such regions.
No pairwise interactions found for the domain ABC_membrane

Total Mutations Found: 136
Total Disease Mutations Found: 74
This domain occurred 23 times on human genes (49 proteins).



  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  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
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (PFIC2)
  COLCHICINE RESISTANCE
  CYSTIC FIBROSIS
  CYSTIC FIBROSIS (CF)
  DUBIN-JOHNSON SYNDROME
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1 (GBD1)
  HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA
  HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO, INCLUDED
  PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO
  PSEUDOXANTHOMA ELASTICUM
  PSEUDOXANTHOMA ELASTICUM, INCLUDED
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF, INCLUDED


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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for ABC_membrane














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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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