ABCMdb

PMID: 9311495

Ho LP, Samways JM, Porteous DJ, Dorin JR, Carothers A, Greening AP, Innes JA
Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis.
Eur Respir J. 1997 Sep;10(9):2018-22., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Homozygotes for ∆F508 mutation have been found to have a greater incidence of pancreatic insufficiency, worse lung function and higher mortality compared to other genotypes [2, 3] while isolated mutations such as A455E are associated with a mild clinical course [4]. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gln493* ABCC7 p.Gln493* Data analysis Patients were divided into two groups, according to genotype: 1) mutations that fail to generate significant apical membrane protein (∆F508/∆F508, ∆F508/ W1282X, ∆F508/Q493X) and 2) mutations where gene product is present in the apical membrane (∆F508/G551D, ∆F508/ A455E, Ƞ6;F508/R117H, G551D/G551D) [12]. Login to comment 123 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu All, however, were pancreatic insufficient and were colonized by Pseudomonas spp. The only two pancreatic sufficient subjects were those who also showed the two highest values for chloride secretion ( genotypes A455E/∆F508 and R117H/∆F508). Login to comment