ABCC7 p.Asp836Ala

ClinVar: c.2506G>T , p.Asp836Tyr ? , not provided
CF databases: c.2506G>T , p.Asp836Tyr (CFTR1) ? , This mutation was found in a French adult patient. The defect on the other chromosome is not yet characterized.
Predicted by SNAP2: A: N (72%), C: N (57%), E: N (93%), F: D (63%), G: D (53%), H: N (57%), I: D (53%), K: N (66%), L: N (66%), M: N (53%), N: N (57%), P: D (66%), Q: N (82%), R: D (59%), S: N (61%), T: N (82%), V: N (53%), W: N (53%), Y: N (53%),
Predicted by PROVEAN: A: N, C: D, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

[switch to compact view]
Comments [show]
Publications
[hide] Wang G
State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.
J Biol Chem. 2010 Dec 24;285(52):40438-47. Epub 2010 Oct 15., 2010-12-24 [PMID:20952391]

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

[hide] Wang G, Duan DD
Regulation of Activation and Processing of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by a Complex Electrostatic Interaction between the Regulatory Domain and Cytoplasmic Loop 3.
J Biol Chem. 2012 Oct 11., [PMID:23060444]

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