ABCC7 p.Ile336Leu

ClinVar: c.1007T>A , p.Ile336Lys D , Pathogenic
CF databases: c.1007T>A , p.Ile336Lys D , CF-causing ; CFTR1: This is a missense mutation which is caused by a subsitution of a T to an A nucleotide position 1139 thereby replacing an uncharged amino acid for an charged amino acid in the first transmembrane region of the CFTR gene. This mutation was found in 1 out of 61 unrelated Belgian CF chromosomes.
c.1006A>C , p.Ile336Leu (CFTR1) ? ,
Predicted by SNAP2: A: D (91%), C: D (85%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), K: D (53%), L: D (91%), M: D (91%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: N (53%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: D, Y: D,

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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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