ABCC7 p.Asp985His

ClinVar: c.2953G>T , p.Asp985Tyr ? , not provided
c.2953G>C , p.Asp985His ? , not provided
CF databases: c.2953G>T , p.Asp985Tyr (CFTR1) D , A novel missense mutation D985Y, in exon 16, was discovered in a CF patient, originating from North-Africa. Sequencing shows a G to T substitution at position 3085. This mutation abolishes as FokI site. The patient is pancreatic insufficient and presents a severe form of the disease. He carries the 711+1G->T mutation on the other chromosome. This novel mutation was not found on 50 non-[delta]F508 CF chromosomes.
c.2953G>C , p.Asp985His (CFTR1) ? , This missense mutation was found by DGGE and identified by direct sequencing in a CF patient from Southern France with [delta]F508 on the other chromosome. The change results in a new NdeII site.
Predicted by SNAP2: A: D (66%), C: D (66%), E: N (57%), F: D (75%), G: D (80%), H: D (80%), I: D (71%), K: D (85%), L: D (75%), M: D (71%), N: D (71%), P: D (85%), Q: D (71%), R: D (85%), S: N (53%), T: D (66%), V: D (75%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: D, C: D, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: D, S: N, T: D, V: D, W: D, Y: D,

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[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]

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