ABCC7 p.Phe319Val

CF databases: c.955T>G , p.Phe319Val (CFTR1) ? ,
Predicted by SNAP2: A: N (61%), C: N (57%), D: D (85%), E: D (75%), G: D (75%), H: D (75%), I: N (78%), K: D (80%), L: N (72%), M: N (82%), N: D (75%), P: D (85%), Q: D (71%), R: D (80%), S: D (71%), T: N (57%), V: N (78%), W: D (75%), Y: D (66%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: N, Y: N,

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[hide] Poulou M, Fylaktou I, Fotoulaki M, Kanavakis E, Tzetis M
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11., [PMID:22326559]

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