ABCMdb

PMID: 23637307

Wilschanski M, Novak I
The cystic fibrosis of exocrine pancreas.
Cold Spring Harb Perspect Med. 2013 May 1;3(5):a009746. doi: 10.1101/cshperspect.a009746., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCC7 p.Gly85Glu A few missense mutations (e.g., G85E) conferavariable pancreatic phenotype. Login to comment 67 ABCC7 p.Arg75Gln However, a novel finding was that the variant R75Q of CFTR increases the risk of pancreatitis markedly. Login to comment 128 ABCC7 p.Arg117His Another study on HEK293 cells expression system showed that CFTR mutants associated with PI (e.g., I1489T) did not support HCO3 2 transport, whereas those associated with PS (e.g., R117H) show reduced transport (Choi et al. 2001). Login to comment 236 ABCC7 p.Gly551Asp ABCC7 p.Gly480Cys G551D and G480C mutants would be of interest for pancreas, as these mutations are associated with PI. Login to comment