ABCC7 p.Leu548Cys
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PMID: 19114635
[PubMed]
Wang X et al: "Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel."
No.
Sentence
Comment
22
The mutants G551C, L548C, and S549C, all in the signature sequence of CFTR`s NBD1, show robust response to Cd2+ .
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ABCC7 p.Leu548Cys 19114635:22:19
status: NEW107 However, for L548C, S549C, and G551C, the specificity of the ligand is altered so that Cd2+ becomes more effective at gating Cd2+ Is More Potent on G551C than on G551D We considered two possible mechanisms for the effect of Cd2+ on G551D-CFTR.
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ABCC7 p.Leu548Cys 19114635:107:13
status: NEW148 D I S C U S S I O N Here, we show that micromolar concentrations of Cd2+ can dramatically increase the activity of G551D-CFTR, a disease-associated mutant, as well as G551C-CFTR, L548C, and S549C-CFTR, in the absence of ATP.
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ABCC7 p.Leu548Cys 19114635:148:179
status: NEW