ABCC7 p.Val1318Ala

ClinVar: c.3953T>C , p.Val1318Ala ? , not provided
CF databases: c.3953T>C , p.Val1318Ala (CFTR1) ? , CBAVD.
Predicted by SNAP2: A: N (97%), C: N (78%), D: N (53%), E: N (66%), F: N (53%), G: N (82%), H: N (66%), I: N (87%), K: N (57%), L: N (87%), M: N (78%), N: N (66%), P: N (72%), Q: N (72%), R: N (57%), S: N (93%), T: N (93%), W: D (59%), Y: N (53%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, W: D, Y: D,

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[hide] Modiano G, Bombieri C, Ciminelli BM, Belpinati F, Giorgi S, Georges M, Scotet V, Pompei F, Ciccacci C, Guittard C, Audrezet MP, Begnini A, Toepfer M, Macek M, Ferec C, Claustres M, Pignatti PF
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.
Eur J Hum Genet. 2005 Feb;13(2):184-92., [PMID:15536480]

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