ABCC7 p.Cys491Arg

ClinVar: c.1471T>C , p.Cys491Arg ? , not provided
CF databases: c.1471T>C , p.Cys491Arg (CFTR1) ? , This misense has been found in a CF patient of North African origin with [delta]F508 on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
c.1472G>C , p.Cys491Ser (CFTR1) ? ,
Predicted by SNAP2: A: N (82%), D: D (85%), E: D (71%), F: D (71%), G: D (59%), H: D (85%), I: N (57%), K: D (71%), L: D (59%), M: D (59%), N: D (75%), P: D (75%), Q: D (63%), R: D (85%), S: N (66%), T: N (61%), V: N (87%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: 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: D, Y: N,

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[hide] Scotet V, Dugueperoux I, Audrezet MP, Audebert-Bellanger S, Muller M, Blayau M, Ferec C
Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.
Am J Obstet Gynecol. 2010 Dec;203(6):592.e1-6. Epub 2010 Oct 8., [PMID:20932506]

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[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]

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