ABCC7 p.Gln353Ala

ClinVar: c.1059A>C , p.Gln353His ? , not provided
c.1057C>T , p.Gln353* ? , not provided
CF databases: c.1059A>C , p.Gln353His (CFTR1) ? , This mutation was found by DGGE and direct sequencing in Caucasian patients.
Predicted by SNAP2: A: D (75%), C: D (80%), D: D (91%), E: D (85%), F: D (80%), G: D (85%), H: D (75%), I: D (75%), K: D (91%), L: D (80%), M: D (80%), N: D (85%), P: D (91%), R: D (91%), S: D (71%), T: D (80%), V: D (75%), W: D (91%), Y: D (75%),
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, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Cui G, Song B, Turki HW, McCarty NA
Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.
Pflugers Arch. 2012 Mar;463(3):405-18. Epub 2011 Dec 13., [PMID:22160394] [PubMed]

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