ABCC7 p.Cys832Ser

ClinVar: c.2496C>A , p.Cys832* ? , not provided
Predicted by SNAP2: A: N (82%), D: N (57%), E: N (61%), F: N (72%), G: N (66%), H: N (78%), I: N (72%), K: N (66%), L: N (72%), M: N (66%), N: N (78%), P: N (53%), Q: N (78%), R: N (66%), S: N (78%), T: N (78%), V: N (87%), W: N (66%), Y: N (72%),
Predicted by PROVEAN: A: N, D: D, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: D, P: D, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

[switch to compact view]
Comments [show]
Publications
[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]

Abstract [show]
Comments [show]
Sentences [show]

[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]

Abstract [show]
Comments [show]
Sentences [show]

[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]

Abstract [show]
Comments [show]
Sentences [show]

[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]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Chaves LA, Gadsby DC
Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.
J Gen Physiol. 2015 Apr;145(4):261-83. doi: 10.1085/jgp.201411347., [PMID:25825169]

Abstract [show]
Comments [show]
Sentences [show]