ABCC7 p.Asn416Ser

CF databases: c.1247A>G , p.Asn416Ser (CFTR1) ? , The mutation was detected by DGGE and DHPLC and identified by direct sequencing. We have seen it only once, in over 3000 chromosomes analysed by DGGE.
Predicted by SNAP2: A: N (61%), C: N (66%), D: N (87%), E: N (61%), F: N (57%), G: N (78%), H: N (93%), I: N (61%), K: N (61%), L: N (57%), M: N (66%), P: N (57%), Q: N (78%), R: N (61%), S: N (87%), T: N (93%), V: N (87%), W: N (57%), Y: N (61%),
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, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Picci L, Cameran M, Marangon O, Marzenta D, Ferrari S, Frigo AC, Scarpa M
A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
J Cyst Fibros. 2010 Jan;9(1):29-35. Epub 2009 Nov 7., [PMID:19897426]

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[hide] El-Seedy A, Dudognon T, Bilan F, Pasquet MC, Reboul MP, Iron A, Kitzis A, Ladeveze V
Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.
J Mol Diagn. 2009 Sep;11(5):488-93., [PMID:19710401]

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[hide] El-Seedy A, Pasquet MC, Bienvenu T, Bieth E, Audrezet MP, Kitzis A, Ladeveze V
Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.
J Cyst Fibros. 2013 Jul;12(4):407-10. doi: 10.1016/j.jcf.2012.11.006. Epub 2012 Dec 21., [PMID:23261175]

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