ABCMdb

PMID: 18506640

Voter KZ, Ren CL
Diagnosis of cystic fibrosis.
Clin Rev Allergy Immunol. 2008 Dec;35(3):100-6., [PubMed]

Sentences

No. Mutations Sentence Comment

107 ABCC7 p.Arg117His For example the R117H mutation results in decreased chloride conductance [24], and when associated with a 5T polymorphism in intron 8, it leads to CF lung disease [18]. Login to comment 108 ABCC7 p.Arg117His However, patients with an R117H/7T haplotype have been reported to also have clinical features of CF lung disease [25, 26]. Login to comment 114 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Gln1412* Figure reproduced from Ref. [6], with permission Table 7 Classes of CFTR gene mutations associated with CF disease Mutation class Mechanism of action Examples I Absence of protein synthesis because of a stop codon in the gene G542X II Improper folding and processing ΔF508 III Reduced response to regulatory molecules G551D IV Reduce ion conductance R117H V Decreased protein production due to splice defects or promoter mutations 3,849+10 kb C→T VI Decreased protein stability Q1412X 104 measurement of transepithelial ion flow in the nasal mucosa [28-30]. Login to comment