ABCC7 p.Phe229Arg

Predicted by SNAP2: A: N (72%), C: N (53%), D: D (85%), E: D (75%), G: D (75%), H: D (75%), I: N (82%), K: D (80%), L: N (78%), M: N (66%), N: D (75%), P: D (85%), Q: D (71%), R: D (80%), S: N (61%), T: N (57%), V: N (87%), W: D (75%), Y: D (66%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Loo TW, Clarke DM
The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.
Biochem Pharmacol. 2014 Mar 1;88(1):46-57. doi: 10.1016/j.bcp.2013.12.027. Epub 2014 Jan 9., [PMID:24412276]

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