ABCC7 p.Met82Ile

CF databases: c.244A>G , p.Met82Val (CFTR1) ? , The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 400 control chromosomes from Italian population.
Predicted by SNAP2: A: N (66%), C: N (53%), D: D (85%), E: D (80%), F: N (53%), G: D (75%), H: D (80%), I: N (82%), K: D (85%), L: N (82%), N: D (80%), P: D (75%), Q: D (75%), R: D (85%), S: D (53%), T: N (57%), V: N (82%), W: D (80%), Y: D (53%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: N, L: N, N: D, P: D, Q: N, R: D, S: N, T: N, V: N, W: N, Y: N,

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[hide] Monaghan KG, Highsmith WE, Amos J, Pratt VM, Roa B, Friez M, Pike-Buchanan LL, Buyse IM, Redman JB, Strom CM, Young AL, Sun W
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.
Genet Med. 2004 Sep-Oct;6(5):421-5., [PMID:15371907]

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