ABCMdb

PMID: 11737931

Noone PG, Knowles MR
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations.
Respir Res. 2001;2(6):328-32. Epub 2001 Aug 9., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg117His Generally, one 'severe` allele is combined with one 'mild` allele, such that the 'mild` allele appears to dominate and cause the milder phenotype (e.g. ∆F508 in combination with R117H). Login to comment 41 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His For example, the mild CFTR mutation R117H is influenced by the polythymidine tract sequence, such that an R117H- bearing allele in cis with a 7T allele may result in CBAVD, whereas when R117H is associated with the 5T allele the phenotypic expression may be associated with atypical CF. Login to comment 42 ABCC7 p.Arg117His R117H with a 9T allele may exhibit a normal phenotype. Login to comment