ABCC7 p.Phe354Arg

Predicted by SNAP2: A: D (71%), C: D (63%), D: D (85%), E: D (85%), G: D (85%), H: D (85%), I: N (53%), K: D (85%), L: N (61%), M: D (63%), N: D (85%), P: D (85%), Q: D (80%), R: D (85%), S: D (80%), T: D (80%), V: D (59%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, 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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