ABCB1 p.Leu1260Ala
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PMID: 18708637
[PubMed]
Loo TW et al: "Processing mutations disrupt interactions between the nucleotide binding and transmembrane domains of P-glycoprotein and the cystic fibrosis transmembrane conductance regulator (CFTR)."
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Comment
5
The presence of a processing mutation (G268V/L443C(NBD1)/S909C(TMD2); L1260A/ A266C(TMD1)/F1086C(NBD2)) resulted in the synthesis of the immature (150 kDa) protein as the major product and the mutants could not be cross-linked with copper phenanthroline.
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ABCB1 p.Leu1260Ala 18708637:5:70
status: NEW