ABCMdb

PMID: 17534127

Southern KW
Cystic fibrosis and formes frustes of CFTR-related disease.
Respiration. 2007;74(3):241-51., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCC7 p.Trp1282* In Ashkenazi Jews, W1282X accounts for nearly 50% of mutated CFTR alleles and this is the only significant population in which phe508del is not the dominant CF-causing mutation [12]. Login to comment 34 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Interestingly, the most prevalent CFTR mutations aside from phe508del are thought to originate from ancient populations (G542X, Phoenicians [16]; G551D, Celtic [17], and 394delTT, Nordic [17]), though none approach the prevalence of phe508del. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg1066Cys ABCC7 p.Ala561Glu Classes of CFTR mutations, with molecular and phenotypic consequences Class Molecular consequence Example Phenotypic consequence I nonsense or frameshift mutations that result in no significant protein product G542X typical CF phenotype II protein product does not negotiate intracellular trafficking pathways phe508del R1066C A561E typical CF phenotype III protein product transported to the cell membrane but no significant ion transport function G551D typical CF phenotype IV protein product transported to cell membrane and functions at a low level R117H R334W associated with pancreatic sufficiency V reduced mRNA expression, protein product normal 5T variant of intron poly T region. Login to comment 136 ABCC7 p.Arg117His Additionally 5T can occur in trans with R117H (a mild class IV mutation). Login to comment 175 ABCC7 p.Ser1455* In contrast, a nonsense mutation (S1455X) results in truncation of the final 26 amino acids in CFTR and people with this mutation have a positive sweat test with raised sweat chloride levels, but no evidence of lung disease [107]. Login to comment