ABCC7 p.Gly576Arg

ClinVar: c.1727G>C , p.Gly576Ala ? , Conflicting interpretations of pathogenicity, not provided
c.1726G>T , p.Gly576* ? , not provided
CF databases: c.1727G>C , p.Gly576Ala N , Non CF-causing ; CFTR1: The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in a 45 year-old male with absence of the vas deferens, who also has [delta]F508. We have seen it only once, in over 100 non-[delta]F508 chromosomes screened, in this man referred by the Oxford Medical Genetics Laboratories (UK). The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy.
Predicted by SNAP2: A: D (80%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (91%), Q: D (95%), R: D (95%), S: D (53%), T: D (75%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: N, D: N, E: N, F: D, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] El-Seedy A, Girodon E, Norez C, Pajaud J, Pasquet MC, de Becdelievre A, Bienvenu T, des Georges M, Cabet F, Lalau G, Bieth E, Blayau M, Becq F, Kitzis A, Fanen P, Ladeveze V
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
Hum Mutat. 2012 Nov;33(11):1557-65. doi: 10.1002/humu.22129. Epub 2012 Jul 2., [PMID:22678879]

Abstract [show]
Comments [show]
Sentences [show]