ABCC7 p.Pro1072Ala

CF databases: c.3215C>T , p.Pro1072Leu (CFTR1) ? , P1072L was detected by DGGE analysis and identified by automatic sequencing in a COPD patient with chronic bronchitis. The mutation creates an Alu I restriction site. It was found once out of 104 chromosomes of COPD patients. It was never observed in 120 control chromosomes, in 46 chromosomes of DBE patients, and in 104 chromosomes of CF patients.
Predicted by SNAP2: A: N (57%), C: D (59%), D: N (53%), E: N (61%), F: D (85%), G: D (53%), H: D (53%), I: D (63%), K: N (57%), L: N (53%), M: D (63%), N: N (72%), Q: N (61%), R: N (57%), S: N (78%), T: N (72%), V: D (59%), W: D (85%), 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, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Dong Q, Ostedgaard LS, Rogers C, Vermeer DW, Zhang Y, Welsh MJ
Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR-DeltaF508 processing and alter its gating defect.
Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):917-22. Epub 2011 Dec 30., [PMID:22210114]

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