PMID: 21464130

Gonzalez-Cabo P, Bolinches-Amoros A, Cabello J, Ros S, Moreno S, Baylis HA, Palau F, Vazquez-Manrique RP
Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans.
J Biol Chem. 2011 Jun 17;286(24):21304-14. Epub 2011 Apr 4., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 21464130:20:118
status: NEW
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ABCB7 p.Ile400Met
X
ABCB7 p.Ile400Met 21464130:20:132
status: NEW
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 Two of these are missense mutations, which cause the substitution of residues within the ABCB7 transmembrane domains: V411L (4) and I400M (2). Login to comment 21 ABCB7 p.Glu433Lys
X
ABCB7 p.Glu433Lys 21464130:21:65
status: NEW
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 The third mutation produces a more substantial amino acid change E433K (5). Login to comment 22 ABCB7 p.Glu433Lys
X
ABCB7 p.Glu433Lys 21464130:22:28
status: NEW
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 A human cDNA containing the E433K change is able to partially rescue yeast carrying a mutation in ATM1, the homologue of ABCB7, suggesting that this change does not cause a complete loss of function (5). Login to comment