ABCC7 p.Glu56Leu

ClinVar: c.166G>A , p.Glu56Lys ? , not provided
CF databases: c.166G>A , p.Glu56Lys D , CF-causing ; CFTR1: Missense mutation E56K was identified in a German CBAVD patient heterozygous for this mutation and for [delta]F508.
Predicted by SNAP2: A: N (72%), C: N (72%), D: N (72%), F: N (72%), G: N (57%), H: N (78%), I: N (66%), K: N (61%), L: N (72%), M: N (72%), N: N (72%), P: D (53%), Q: N (82%), R: N (61%), S: N (72%), T: N (72%), V: N (78%), W: N (53%), Y: N (82%),
Predicted by PROVEAN: A: N, C: D, D: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: N,

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[hide] Ren HY, Grove DE, De La Rosa O, Houck SA, Sopha P, Van Goor F, Hoffman BJ, Cyr DM
VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.
Mol Biol Cell. 2013 Oct;24(19):3016-24. doi: 10.1091/mbc.E13-05-0240. Epub 2013 Aug 7., [PMID:23924900]

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