ABCC7 p.Cys590Leu

Predicted by SNAP2: A: D (53%), D: D (91%), E: D (91%), F: D (91%), G: D (80%), H: D (85%), I: D (85%), K: D (75%), L: D (80%), M: D (85%), N: D (85%), P: D (91%), Q: D (85%), R: D (91%), S: D (71%), T: D (75%), V: D (75%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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Publications
[hide] Wang W, Oliva C, Li G, Holmgren A, Lillig CH, Kirk KL
Reversible silencing of CFTR chloride channels by glutathionylation.
J Gen Physiol. 2005 Feb;125(2):127-41. Epub 2005 Jan 18., [PMID:15657297]

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[hide] Mense M, Vergani P, White DM, Altberg G, Nairn AC, Gadsby DC
In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.
EMBO J. 2006 Oct 18;25(20):4728-39. Epub 2006 Oct 12., 2006-10-18 [PMID:17036051]

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[hide] Wang Y, Loo TW, Bartlett MC, Clarke DM
Correctors promote maturation of cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by binding to the protein.
J Biol Chem. 2007 Nov 16;282(46):33247-51. Epub 2007 Oct 2., 2007-11-16 [PMID:17911111]

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[hide] Loo TW, Bartlett MC, Clarke DM
Correctors promote folding of the CFTR in the endoplasmic reticulum.
Biochem J. 2008 Jul 1;413(1):29-36., 2008-07-01 [PMID:18361776]

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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] Serrano JR, Liu X, Borg ER, Alexander CS, Shaw CF 3rd, Dawson DC
CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.
Biophys J. 2006 Sep 1;91(5):1737-48. Epub 2006 Jun 9., [PMID:16766608]

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[hide] Cui G, Freeman CS, Knotts T, Prince CZ, Kuang C, McCarty NA
Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.
J Biol Chem. 2013 Jul 12;288(28):20758-67. doi: 10.1074/jbc.M113.476226. Epub 2013 May 24., [PMID:23709221]

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