ABCMdb

PMID: 1281034

Higgins CF
Cystic fibrosis transmembrane conductance regulator (CFTR).
Br Med Bull. 1992 Oct;48(4):754-65., [PubMed]

Sentences

No. Mutations Sentence Comment

82 ABCC7 p.Gly1349Asp First, a mutation which has been associated with the disease (G1349D), when introduced into CFTR does not appear to affect its ability to generate a chloride channel or alter the characteristics of that channel;3 this mutation might cause CF by altering another function of CFTR. Login to comment 97 ABCC7 p.Gly551Asp Furthermore, even CFTR with 2 common 'severe' mutations (G551D or AF5O8) exhibits some chloride channel activity when expressed in heterologous cell types.39 ' *° Second, CF mutations might alter the channel properties: this is the case for AF508 which decreases the sensitivity of the channel to cAMP activation and also decreases the open state probability {see McPherson and Dormer this issue).39 - 4° This latter alternative is consistent with the location of many CF mutations on loops which may be involved in conformational coupling between the ATP-binding domains and other domains of the protein {see above). Login to comment 100 ABCC7 p.Gly1349Asp This view is supported by the finding that one CF mutation (G1349D) does not appear to alter channel function,3 although it must be emphasised that other explanations for this can be advanced. Login to comment