ABCC7 p.Glu115Arg

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PMID: 25024266 [PubMed] Cui G et al: "Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR."
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124 To probe the potential mechanisms by which mutation of these charged residues leads to CF, we first recorded the single-channel behavior of a series of CFTR channel mutants bearing a single mutation at one of the six charged sites (D110R, D112R, K114D, E115R, E116R, or R117A).
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ABCC7 p.Glu115Arg 25024266:124:253
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132 In contrast, D112R- and E115R-CFTR each mainly opened to the full open state with subconductance states appearing as rare events and mean burst durations very close to that of WT-CFTR.
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ABCC7 p.Glu115Arg 25024266:132:24
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145 (A) Representative single-channel current traces and their all-points histograms for WT-, D110R-, D112R-, K114D-, E115R-, E116R-, and R117A-CFTR from inside-out membrane patches excised from Xenopus oocytes, with symmetrical 150 mM Cl&#e032; solution in the presence of 1 mM MgATP and 50 U/ml PKA.
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ABCC7 p.Glu115Arg 25024266:145:114
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149 (B and C) Single-channel amplitudes of the full open state (B) and mean burst durations (C) of WT-, D110R-, D112R-, K114D-, E115R-, E116R-, and R117A-CFTR.
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ABCC7 p.Glu115Arg 25024266:149:124
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