ABCC7 p.Ala566Asp

ClinVar: c.1696G>A , p.Ala566Thr ? , not provided
CF databases: c.1697C>A , p.Ala566Asp (CFTR1) D , He originated from the Esfahan province in the centre of Iran.
c.1696G>A , p.Ala566Thr (CFTR1) ? , This mutation was detected by SSCP/HA analysis and confirmed by bi-directional sequencing. The patient's other mutation is deltaF508. Both the patient's parents are Swedish in origin. The patient was referred to Manchester for analysis from the Adult CF Centre at Papworth Hospital, Cambridge by Dr Bilton
Predicted by SNAP2: C: N (72%), D: D (75%), E: D (75%), F: D (66%), G: N (53%), H: D (66%), I: D (59%), K: D (71%), L: D (63%), M: D (53%), N: N (78%), P: D (63%), Q: D (63%), R: D (66%), S: N (66%), T: N (53%), V: N (53%), W: D (75%), Y: D (66%),
Predicted by PROVEAN: 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: N, T: D, V: D, W: D, Y: D,

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[hide] Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
J Cyst Fibros. 2008 Mar;7(2):102-9. Epub 2007 Jul 27., [PMID:17662673]

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