ABCMdb

PMID: 14555458

Gibson RL, Burns JL, Ramsey BW
Pathophysiology and management of pulmonary infections in cystic fibrosis.
Am J Respir Crit Care Med. 2003 Oct 15;168(8):918-51., 2003-10-15 [PubMed]

Sentences

No. Mutations Sentence Comment

38 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Trp1282* The other 21 common mutations are often found in higher frequency in particular ethnic groups, such as the W1282X mutation in Askenazi Jewish populations (16), G551D in French Canadians (17), and 3,120 ϩ 1G → A in African/Mediterranean populations (18). Login to comment 77 ABCC7 p.Gly542* Class 1 mutations, exemplified by G542X, contain premature stop mutations that create truncated mRNA. Login to comment 79 ABCC7 p.Gly551Asp Class 3 mutations, such as G551D, reach the cell membrane but the channel is not properly activated. Login to comment 80 ABCC7 p.Arg347Pro Class 4 mutations, exemplified by R347P, reach the cell surface and the channel can be activated but have decreased chloride conductance. Login to comment