ABCC7 p.Lys14Arg

ClinVar: c.40A>T , p.Lys14* ? , not provided
Predicted by SNAP2: A: N (53%), C: D (59%), D: D (75%), E: D (63%), F: D (59%), G: D (66%), H: N (61%), I: N (57%), L: N (57%), M: D (63%), N: N (72%), P: D (80%), Q: N (78%), R: N (93%), S: N (61%), T: N (57%), V: D (66%), W: D (80%), Y: D (53%),
Predicted by PROVEAN: A: N, C: D, D: D, E: N, F: D, G: D, H: N, I: D, L: D, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Lee S, Henderson MJ, Schiffhauer E, Despanie J, Henry K, Kang PW, Walker D, McClure ML, Wilson L, Sorscher EJ, Zeitlin PL
Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.
Mol Cell Biol. 2014 Jul;34(14):2554-65., [PMID:24777605]

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