ABCC7 p.Gln552His
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PMID: 16442101
[PubMed]
Frelet A et al: "Insight in eukaryotic ABC transporter function by mutation analysis."
No.
Sentence
Comment
212
Q552H (NBD1) slowed CFTR channel opening without affecting closing, whereas the converse mutation, H1350Q (NBD2) accelerated channel closing without influencing the channel opening rate [68].
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ABCC7 p.Gln552His 16442101:212:0
status: NEW
PMID: 12508051
[PubMed]
Vergani P et al: "On the mechanism of MgATP-dependent gating of CFTR Cl- channels."
No.
Sentence
Comment
34
Thus, the K1250A mutation dramatically prolonged burst duration, suggesting that hydrolysis at NBD2 might be coupled to burst termination (Carson et al., 1995; Gunderson and Kopito, 1995), whereas the NBD1 mutations K464A, Q552A, and Q552H somewhat slowed channel opening to a burst, suggesting that NBD1 might be a site of ATP interactions governing opening (Carson et al., 1995; Carson and Welsh 1995).
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ABCC7 p.Gln552His 12508051:34:234
status: NEW
PMID: 9922377
[PubMed]
Gadsby DC et al: "Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis."
No.
Sentence
Comment
465
Functional analyses of CFTR channels bearing point mutations these results from G proteins, introduction of the mutation Q552H into NBD1 of CFTR slowed CFTR channelin these three key regions have begun to clarify the roles of the two NBDs in channel gating.
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ABCC7 p.Gln552His 9922377:465:121
status: NEW
PMID: 8599650
[PubMed]
Carson MR et al: "Structural and functional similarities between the nucleotide-binding domains of CFTR and GTP-binding proteins."
No.
Sentence
Comment
27
To test these hypotheses we used the excised inside-out patch-clamp technique to study CFTR variants containing the Q552A, Q552H, H1350Q, and H1350A mutations.
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ABCC7 p.Gln552His 8599650:27:123
status: NEW72 That is, Q552A and Q552H decreased the rate at A. I I 40 80 120 V (mV) I (pA) 0.50- P0 FIGURE 2 Effect of Q552 and H1350 mutations on CFTR Cl- chan- nels.
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ABCC7 p.Gln552His 8599650:72:19
status: NEW77 Open circles, wild-type; open triangles, Q552A; open squares, Q552H; filled circles, H1350A; filled triangles, H1350Q.
X
ABCC7 p.Gln552His 8599650:77:62
status: NEW