ABCC7 p.Cys225Ser

ClinVar: c.673T>C , p.Cys225Arg ? , not provided
c.675T>A , p.Cys225* ? , not provided
CF databases: c.673T>C , p.Cys225Arg (CFTR1) D , This mutation was found on one CF chromosome, in association with haplotype D. The patient (13 years old) is compound heterozygote. He carries [delta]F508 on the other chormosome and has pancreatic insufficiency.
Predicted by SNAP2: A: D (63%), D: D (95%), E: D (95%), F: D (91%), G: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (71%), S: D (75%), T: D (85%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: N, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Chen EY, Bartlett MC, Loo TW, Clarke DM
The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.
J Biol Chem. 2004 Sep 17;279(38):39620-7. Epub 2004 Jul 21., 2004-09-17 [PMID:15272010]

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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] 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] Holstead RG, Li MS, Linsdell P
Functional Differences in Pore Properties Between Wild-Type and Cysteine-Less Forms of the CFTR Chloride Channel.
J Membr Biol. 2011 Oct;243(1-3):15-23. Epub 2011 Jul 28., [PMID:21796426]

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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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