ABCC7 p.Gln207Leu

ClinVar: c.619C>T , p.Gln207* ? , not provided
Predicted by SNAP2: A: D (75%), C: D (75%), D: D (85%), E: D (75%), F: D (85%), G: D (80%), H: D (85%), I: D (85%), K: D (85%), L: D (85%), M: D (75%), N: D (80%), P: D (91%), R: D (85%), S: D (71%), T: D (75%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Wehbi H, Rath A, Glibowicka M, Deber CM
Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin.
Biochemistry. 2007 Jun 19;46(24):7099-106. Epub 2007 May 22., 2007-06-19 [PMID:17516627]

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[hide] Wehbi H, Gasmi-Seabrook G, Choi MY, Deber CM
Positional dependence of non-native polar mutations on folding of CFTR helical hairpins.
Biochim Biophys Acta. 2008 Jan;1778(1):79-87. Epub 2007 Sep 15., [PMID:17949679]

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[hide] Choi MY, Cardarelli L, Therien AG, Deber CM
Non-native interhelical hydrogen bonds in the cystic fibrosis transmembrane conductance regulator domain modulated by polar mutations.
Biochemistry. 2004 Jun 29;43(25):8077-83., [PMID:15209503]

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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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