ABCC7 p.Arg75Glu

ClinVar: c.224G>A , p.Arg75Gln ? , Conflicting interpretations of pathogenicity
c.224G>T , p.Arg75Leu ? , not provided
c.223C>T , p.Arg75* D , Pathogenic
CF databases: c.224G>A , p.Arg75Gln N , Non CF-causing
c.223C>T , p.Arg75* D , CF-causing
c.224G>T , p.Arg75Leu (CFTR1) D , The mucleotide change G->T at position 356 (codon 75 in exon 3) has been found in an infertile man with CBAVD having no manifestation of gastrointestinal or pulmonary disease. He carries the [delta]F508 mutation on the other chromosome.
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (80%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (91%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, S: D, T: D, V: D, W: D, Y: D,

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[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]

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