ABCC7 p.Ala399Asp

ClinVar: c.1196C>A , p.Ala399Asp ? , not provided
CF databases: c.1196C>A , p.Ala399Asp (CFTR1) ? , This change has been detected by DGGE analysis and direct sequencing. The mutation creates a Ple I restriction site
c.1196C>T , p.Ala399Val (CFTR1) ? , This mutation was detected in one of the CFTR alleles of a 15-year old Japanese female patient with disseminated bronchiectasis. She is pancreatic sufficient, and her sweat chloride level was normal (27 mmol/L), and no other CFTR mutation was found despite the extensive search.
Predicted by SNAP2: C: N (82%), D: D (75%), E: N (61%), F: N (66%), G: N (78%), H: N (61%), I: N (72%), K: N (53%), L: N (66%), M: N (66%), N: N (66%), P: N (57%), Q: D (66%), R: N (57%), S: N (87%), T: N (72%), V: D (59%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Alonso MJ, Heine-Suner D, Calvo M, Rosell J, Gimenez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Ann Hum Genet. 2007 Mar;71(Pt 2):194-201., [PMID:17331079]

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[hide] Masvidal L, Igreja S, Ramos MD, Alvarez A, de Gracia J, Ramalho A, Amaral MD, Larriba S, Casals T
Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.
Eur J Hum Genet. 2014 Jun;22(6):784-91. doi: 10.1038/ejhg.2013.238. Epub 2013 Oct 16., [PMID:24129438]

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