ABCMdb

PMID: 16078047

van de Vosse E, Ali S, de Visser AW, Surjadi C, Widjaja S, Vollaard AM, van Dissel JT
Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR).
Hum Genet. 2005 Oct;118(1):138-40. Epub 2005 Oct 28., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Trp1282* A few other mutations in CFTR are present at high frequency in specific subpopulations (e.g. W1282X in Ashkenazi Jews (Kornreich et al. 2004) and 1677delTA around the Black Sea (Angelicheva et al. 2005)). Login to comment 12 ABCC7 p.Trp1282* ABCC7 p.Ser489* A CFTR null allele (S489X) in mice was found to confer resistance to cholera toxin (Gabriel et al. 1994), however, this particular mutation is very rare in humans (found in one patient) and may not be comparable to F508del, W1282X and 1677del TA in survival in a population. Login to comment