ABCC7 p.Gln1291Ala

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PMID: 16442101 [PubMed] Frelet A et al: "Insight in eukaryotic ABC transporter function by mutation analysis."
No. Sentence Comment
299 [137] Q493A, Q1291A, N505C, N1303K Q493A and N505C reduced and increased the frequency of CO, respectively.
X
ABCC7 p.Gln1291Ala 16442101:299:13
status: NEW
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300 Q1291A decreased the effects of pyrophosphate without altering other functions.
X
ABCC7 p.Gln1291Ala 16442101:300:0
status: NEW
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PMID: 11788611 [PubMed] Berger AL et al: "Mutations that change the position of the putative gamma-phosphate linker in the nucleotide binding domains of CFTR alter channel gating."
No. Sentence Comment
6 In NBD2, Q1291A decreased the effects of pyrophosphate without altering other functions.
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ABCC7 p.Gln1291Ala 11788611:6:9
status: NEW
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79 Single-channel gating of wild type CFTR, CFTR-Q493A, and CFTR-Q1291A.
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ABCC7 p.Gln1291Ala 11788611:79:62
status: NEW
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80 A, examples of current from excised inside-out membrane patches containing single CFTR channels in the presence of 1 mM ATP and 75 nM PKA. Membrane potential was clamped at -80 mV. B, data from multiple patches. Asterisk indicates p Ͻ 0.05; n ϭ 7 for WT, n ϭ 4 for CFTR-Q493A, and n ϭ 3 for CFTR-Q1291A.
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ABCC7 p.Gln1291Ala 11788611:80:320
status: NEW
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94 Wild type CFTR, CFTR-Q493A, and CFTR-Q1291A had similar dose response curves for ATP-stimulated Cl- current.
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ABCC7 p.Gln1291Ala 11788611:94:37
status: NEW
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98 The apparent EC50 was 176 Ϯ 67 ␮M for wild type CFTR, 217 Ϯ 55 ␮M for CFTR-Q493A, and 159 Ϯ 70 ␮M for CFTR-Q1291A.
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ABCC7 p.Gln1291Ala 11788611:98:146
status: NEW
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101 Wild type CFTR, CFTR-Q493A, and CFTR-Q1291A showed similar cation requirements for Cl-channel activity.
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ABCC7 p.Gln1291Ala 11788611:101:37
status: NEW
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121 Wild type CFTR, CFTR-Q493A, and CFTR-Q1291A were all inhibited by ADP.
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ABCC7 p.Gln1291Ala 11788611:121:37
status: NEW
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122 A, examples of patches incubated with ATP (1 mM) and ADP (1 mM) during the times indicated. B, data from multiple patches show that wild type CFTR, CFTR-Q493A, and CFTR-Q1291A currents were inhibited by ADP to a similar extent.
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ABCC7 p.Gln1291Ala 11788611:122:169
status: NEW
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125 CFTR-Q1291A was stimulated only weakly by PPi.
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ABCC7 p.Gln1291Ala 11788611:125:5
status: NEW
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127 The membrane potential was clamped at -40 mV. Patches were incubated with 1 mM ATP and 4 mM PPi during the times indicated. B, data from multiple patches show that 4 mM PPi stimulated less Cl- current in CFTR-Q1291A (n ϭ 6) than in wild type CFTR (n ϭ 4) or CFTR-Q493A (n ϭ 4).
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ABCC7 p.Gln1291Ala 11788611:127:209
status: NEW
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142 Mutating Gln-1291 in NBD2 Reduced PPi Stimulation of CFTR Channel Activity-In contrast to the NBD1 Gln mutant, the NBD2 Gln variant Q1291A showed gating much like wild type (Fig. 2).
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ABCC7 p.Gln1291Ala 11788611:142:132
status: NEW
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146 Thus the normal burst duration in Q1291A suggests that mutation of the conserved Gln did not disrupt hydrolysis.
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ABCC7 p.Gln1291Ala 11788611:146:34
status: NEW
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147 Wild type CFTR and CFTR-Q1291A had the same apparent EC50 for ATP (Fig. 3) and the same response to variation of the divalent cation (Fig. 4).
X
ABCC7 p.Gln1291Ala 11788611:147:24
status: NEW
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157 Despite the lack of effect of the Q1291A mutation on other aspects of gating, it dramatically reduced PPi stimulation (Fig. 6).
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ABCC7 p.Gln1291Ala 11788611:157:34
status: NEW
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PMID: 25887396 [PubMed] Dong Q et al: "Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia."
No. Sentence Comment
142 Gln mutations that resulted in shortening (Q1291A) or deletion (Q1291G) of the side chain reduced Ap5A inhibition (Fig. 3, A FIGURE 1.
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ABCC7 p.Gln1291Ala 25887396:142:43
status: NEW
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181 No significant differences were detected between bars 1, 3, 4, 5, 6, 7, and 8 (one-way ANOVA followed by Holm-Sidak`s method of all pairwise multiple comparisons; wild-type CFTR, n afd; 13; F508del CFTR, n afd; 10; Q1291A CFTR, n afd; 4; Q1291G CFTR, n afd; 4; Q1291F CFTR, n afd; 6; Q1291H CFTR, n afd; 6; Q1291W CFTR, n afd; 6; Q1291Y CFTR, n afd; 6).
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ABCC7 p.Gln1291Ala 25887396:181:221
status: NEW
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224 Consistent with our findings, a previous study showed that the Q1291A mutation did not change burst duration, interburst interval, or the ATP dose-response curve (52).
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ABCC7 p.Gln1291Ala 25887396:224:63
status: NEW
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