ABCC7 p.Arg1030Gln

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PMID: 17043152 [PubMed] Aubin CN et al: "Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel."
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131 However, both R134Q and R1030Q did yield functional channels (Fig. 10).
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ABCC7 p.Arg1030Gln 17043152:131:24
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142 R1030Q, like wild type, was associated with an almost linear I-V relationship (Fig. 10, A and B).
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ABCC7 p.Arg1030Gln 17043152:142:0
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145 R1030Q single channel currents were readily observed (Fig. 10 C), and these channels showed a slightly, but significantly, reduced single channel conductance (Fig. 10 D) of 4.70 ± 0.04 pS (n = 4) compared with 5.39 ± 0.06 pS (n = 5) for wild type (P < 0.0001, two-tailed t test).
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ABCC7 p.Arg1030Gln 17043152:145:0
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172 (A) Example leak-subtracted macroscopic I-V relationships from R134Q and R1030Q-CFTR in inside-out membrane patches with symmetrical 154 mM Cl- solu- tions, after maximal channel activation.
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ABCC7 p.Arg1030Gln 17043152:172:73
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179 (D) Mean single channel current-voltage relationships for wild type (filled circles) and R1030Q (open circles).
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ABCC7 p.Arg1030Gln 17043152:179:89
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207 R134Q and R1030Q do not appear consistent with loss of an intracellular surface charge.
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ABCC7 p.Arg1030Gln 17043152:207:10
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210 R1030Q did not alter macroscopic current rectification (Fig. 10 B) but was associated with a small decrease in unitary conductance (Fig. 10 D), suggesting that while this residue may play a role in determining pore properties, it does not act as an important inner surface charge.
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ABCC7 p.Arg1030Gln 17043152:210:0
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