ABCMdb

ABCC7 p.Ser519Gly

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Publications

PMID: 22678879 [PubMed] El-Seedy A et al: "CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes."

No. Sentence Comment

108 [3705T>G;1210-13T[5]] 1 Healthy CF carrier`s partner NA NA p.[Ser519Gly;Gly576Ala;Arg668Cys] NI 2 Healthy CF carrier`s partner 37 y, NA NA p.[Asp443Tyr;Gly576Ala;Arg668Cys] NI 20 Healthy CF carrier`s partner 24-42 y NA p.[Gly576Ala;Arg668Cys] NI 1 Healthy CF carrier`s partner 32 y NA p.Gly576Ala NI 1 Healthy CF patient`s mother 37 y NA p.Arg668Cys p.Arg792X 1 Healthy CF relative (p.Gly745X) 22 y NA p.Arg668Cys NI 1 Healthy General population NA NA p.[Gly576Ala;Arg668Cys] NI CF, cystic fibrosis; CF?, suspicion of cystic fibrosis; CBAVD, congenital bilateral absence of vas deferens; CSD, chronic sinus disease; DB, disseminated bronchiectasis; ENT, ear, nose, and throat symptoms; FBA, fetal bowel anomaly; GI, gastrointestinal symptoms; IP, idiopathic pancreatitis; IRT, immunoreactive trypsinemia; m, months; NA, not available; NI, not identified; P, pulmonary symptoms; Pa: Pseudomonas aeruginosa; PI, pancreatic insufficiency; wg, weeks of gestation; ST, sweat test; TOP, termination of pregnancy; y, years. Login to comment
122 Epidemiological Data from the French General Population Of the 1,423 healthy individuals screened, 26 were heterozygous for p.[Gly576Ala;Arg668Cys] (allelic frequency 0.91%, 95% CI 0.60-1.33%); four for p.[Asp443Tyr;Gly576Ala;Arg668Cys] (allelic frequency 0.14%, 95% CI 0.04-0.36%); two for p.Arg668Cys; two for p.Gly576Ala (allelic frequency for each 0.07%, 95% CI 0.0080.25%); and one for p.[Ser519Gly;Gly576Ala;Arg668Cys] (allelic frequency 0.04%, 95% CI 0.0009-0.20%). Login to comment
178 This was corroborated by the observation that additional, different mutations occurred on this haplotype (p.Asp443Tyr, p.Gly149Arg, and p.Ser519Gly, the latter being observed only once in the sample from the general population). Login to comment