ABCC7 p.Val1147Ala

ClinVar: c.3439G>A , p.Val1147Ile ? , not provided
CF databases: c.3439G>A , p.Val1147Ile (CFTR1) ? , This mutation was detected by DGGE and DNA sequencing. The patient is heterozygous for the mutation, He showed gastrointestinal symptoms, very frequent respiratory infections and heart problems. The disease symptoms appeared at the age of 7 months. The DGGE primers were supplied by Michel Goossens on behalf of the European Community Concerted Action for Coordination of Cystic Fibrosis Research and Therapy.
Predicted by SNAP2: A: D (71%), C: D (63%), D: D (91%), E: D (91%), F: D (91%), G: D (91%), H: D (91%), I: D (66%), K: D (95%), L: D (91%), M: D (66%), N: D (91%), P: D (91%), Q: D (91%), R: D (95%), S: D (80%), T: D (80%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D,

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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]

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