ABCMdb

PMID: 9379166

Dawson DC, Smith SS
Cystic fibrosis transmembrane conductance regulator. Permeant ions find the pore.
J Gen Physiol. 1997 Oct;110(4):337-9., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg347Asp Nor was it seen in R347D CFTR, a construct previously shown to lack the anomalous dependence of channel conductance on the mole fraction of SCN characteristic of wild-type CFTR (Tabcharani et al., 1993). Login to comment 31 ABCC7 p.Arg347Asp Interestingly, however, the R347D construct was characterized by an intermediate value of PI/PCl (~1.0) and exhibited a reduced conductance in the presence of Ias expected if this ion binds more tightly than Clin the pore of the mutant protein. Login to comment 37 ABCC7 p.Thr338Ala ABCC7 p.Thr339Ala Of particular interest in this paper is the behavior of a mutant CFTR, T338A, T339A, in which two threonines in TM6 were substituted with alanines. Login to comment 44 ABCC7 p.Arg347Asp The two-site model was also used to simulate the block of CFTR by SCN-, but a three-site model was used to generate the anomalous mole fraction effect previously reported, as well as the properties of the mutant, R347D, in which the anomalous mole fraction effect is lost. Login to comment 108 ABCC7 p.Gly314Arg A novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. Login to comment