ABCC7 p.Trp277Arg

ClinVar: c.830G>A , p.Trp277* D , Pathogenic
c.829T>A , p.Trp277Arg ? , not provided
CF databases: c.829T>A , p.Trp277Arg (CFTR1) D , This mutation, in exon 6b, was detected by SSCA analysis and identified by direct sequencing. The W277R (A>G at 961) mutation was found in one argentinean patient who carries the F508del mutation on the other allele. It was not found on 78 non-F508del CF chromosomes.
Predicted by SNAP2: A: D (71%), C: D (80%), D: D (95%), E: D (91%), F: D (75%), G: D (91%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (80%), N: D (91%), P: D (95%), Q: D (85%), R: D (91%), S: D (91%), T: D (91%), V: D (85%), Y: D (66%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, Y: D,

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[hide] Ramirez AM, Ramos MD, Jimenez J, Ghio A, de Botelli MM, Rezzonico CA, Marques I, Pereyro S, Casals T, de Kremer RD
Mutational spectrum of cystic fibrosis patients from Cordoba province and its zone of influence: implications of molecular diagnosis in Argentina.
Mol Genet Metab. 2006 Apr;87(4):370-5. Epub 2006 Jan 19., [PMID:16423550]

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