ABCMdb

PMID: 7522998

Tsongalis GJ, Faber G, Dalldorf FG, Friedman KJ, Silverman LM, Yankaskas JR
Association of pancreatic adenocarcinoma, mild lung disease, and delta F508 mutation in a cystic fibrosis patient.
Clin Chem. 1994 Oct;40(10):1972-4., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC7 p.Arg117His For example, iF508 is associated with severe lung disease and early death, whereas the R117H mutation, even when heterozygous with F508, is associated with pancreatic sufficiency and longer survival (5). Login to comment 44 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Ala455Glu ABCC7 p.Arg553* ABCC7 p.Gly551Ser ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Gly542* ABCC7 p.Gly85Glu ABCC7 p.Ser945Leu ABCC7 p.Asp1152His ABCC7 p.Phe508Cys CorrelatIon of phenotype and genotype of CFTR mutations Key phenotypic Lung disease SweatC1 Exocnne pancreas function Vasdeferens Associated CFTR mutations Pancreatic InsuffIcIent Pancreatic sufficient Normalsweat C1 Severe Less severe Relatively mild Elevated Elevated Normal Insufficient Sufficient Sufficient Absent Absent Absent SF508, G542X, R553X, G5510, Ni 303K, Wi 282X, RI 17H, and others 2789 + 5G>A, R117H, R334W, R347P, A455E, P574H, S945L, G85E, and others G551S, R117H, 3849 + 10kb C>T, and others Congenitalabsence of the vas deferens None Normal or elevated Sufficient Absent F508C, Ri 17H, Di D1152H, and others FIg. 2. Login to comment 86 ABCC7 p.Arg117His In patients who have the exon 4 missense mutation R117H in conjunction with a severe allele, the phenotype varies considerably, depending on a sequence variation in intron 8 that alters the efficiency of splicing of exon 9 (18). Login to comment 87 ABCC7 p.Arg553Gln Furthermore, evidence indicates that a sequence variation in exon 11, R553Q, can serve to partially alleviate the deleterious effects of a LiF508 allele (19, 20). Login to comment