ABCC7 p.Ile331Cys

ClinVar: c.992T>A , p.Ile331Asn ? , not provided
CF databases: c.992T>A , p.Ile331Asn (CFTR1) ? ,
Predicted by SNAP2: A: D (71%), C: D (59%), D: D (85%), E: D (85%), F: D (63%), G: D (85%), H: D (80%), K: D (85%), L: N (66%), M: D (63%), N: D (80%), P: D (91%), Q: D (75%), R: D (85%), S: D (75%), T: N (53%), V: N (72%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: N, G: D, H: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D,

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[hide] Beck EJ, Yang Y, Yaemsiri S, Raghuram V
Conformational changes in a pore-lining helix coupled to cystic fibrosis transmembrane conductance regulator channel gating.
J Biol Chem. 2008 Feb 22;283(8):4957-66. Epub 2007 Dec 3., 2008-02-22 [PMID:18056267]

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[hide] Fatehi M, Linsdell P
Novel residues lining the CFTR chloride channel pore identified by functional modification of introduced cysteines.
J Membr Biol. 2009 Apr;228(3):151-64. Epub 2009 Apr 19., [PMID:19381710]

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[hide] Alexander C, Ivetac A, Liu X, Norimatsu Y, Serrano JR, Landstrom A, Sansom M, Dawson DC
Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.
Biochemistry. 2009 Oct 27;48(42):10078-88., 2009-10-27 [PMID:19754156]

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[hide] Dawson DC, Smith SS, Mansoura MK
CFTR: mechanism of anion conduction.
Physiol Rev. 1999 Jan;79(1 Suppl):S47-75., [PMID:9922376]

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[hide] Cheung M, Akabas MH
Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.
J Gen Physiol. 1997 Mar;109(3):289-99., [PMID:9089437]

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