ABCC7 p.Trp496Val

ClinVar: c.1487G>A , p.Trp496* ? , not provided
CF databases: c.1487G>A , p.Trp496* D , CF-causing
c.1486T>C , p.Trp496Arg (CFTR1) ? ,
Predicted by SNAP2: A: D (91%), C: D (63%), D: D (95%), E: D (95%), F: D (80%), G: D (95%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (95%), P: D (95%), Q: D (91%), R: D (95%), S: D (95%), T: D (95%), V: D (80%), Y: D (80%),
Predicted by PROVEAN: A: D, C: D, 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, Y: D,

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[hide] Mendoza JL, Schmidt A, Li Q, Nuvaga E, Barrett T, Bridges RJ, Feranchak AP, Brautigam CA, Thomas PJ
Requirements for efficient correction of DeltaF508 CFTR revealed by analyses of evolved sequences.
Cell. 2012 Jan 20;148(1-2):164-74. doi: 10.1016/j.cell.2011.11.023., [PMID:22265409]

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