ABCC7 p.Glu407Gln

ClinVar: c.1220A>T , p.Glu407Val ? , not provided
CF databases: c.1220A>T , p.Glu407Val (CFTR1) ? , The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Canadian CF patient (second mutation: unknown).
Predicted by SNAP2: A: N (78%), C: N (57%), D: N (87%), F: D (53%), G: D (59%), H: N (57%), I: N (53%), K: N (72%), L: N (53%), M: N (53%), N: N (82%), P: D (63%), Q: N (82%), R: D (59%), S: N (78%), T: N (61%), V: N (82%), W: D (53%), Y: D (53%),
Predicted by PROVEAN: A: N, C: D, D: 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, Y: N,

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[hide] Sullivan SK, Agellon LB, Schick R
Identification and partial characterization of a domain in CFTR that may bind cyclic nucleotides directly.
Curr Biol. 1995 Oct 1;5(10):1159-67., [PMID:8548288]

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