ABCC7 p.Tyr577Glu

ClinVar: c.1731C>T , p.Tyr577= D , Likely pathogenic
c.1730A>T , p.Tyr577Phe ? , not provided
CF databases: c.1730A>T , p.Tyr577Phe (CFTR1) ? , Mutation Y577F and 1874insT were found together in another CF patient from Austria; this boy is also heterozygous for [delta]F508.
Predicted by SNAP2: A: D (59%), C: N (61%), D: D (71%), E: D (63%), F: N (82%), G: D (71%), H: N (78%), I: N (61%), K: D (63%), L: N (66%), M: N (53%), N: D (59%), P: D (80%), Q: N (57%), R: D (59%), S: D (63%), T: D (53%), V: N (66%), W: N (57%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: 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,

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[hide] Chong PA, Farber PJ, Vernon RM, Hudson RP, Mittermaier AK, Forman-Kay JD
Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.
J Biol Chem. 2015 Sep 18;290(38):22862-78. doi: 10.1074/jbc.M115.641134. Epub 2015 Jul 6., [PMID:26149808]

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