ABCC7 p.Gln220Gly

ClinVar: c.658C>T , p.Gln220* D , Pathogenic
c.659A>G , p.Gln220Arg ? , not provided
CF databases: c.658C>T , p.Gln220* D , CF-causing
c.659A>G , p.Gln220Arg (CFTR1) ? , Found in a patient with CBAVD.
Predicted by SNAP2: A: N (57%), C: D (59%), D: N (66%), E: N (82%), F: D (75%), G: N (61%), H: N (53%), I: D (71%), K: D (53%), L: D (59%), M: D (71%), N: N (61%), P: D (63%), R: D (63%), S: N (57%), T: N (66%), V: N (57%), W: D (80%), Y: D (71%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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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] [PubMed]

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