PMID: 23087020

Rauh R, Soell D, Haerteis S, Diakov A, Nesterov V, Krueger B, Sticht H, Korbmacher C
A mutation in the beta-subunit of ENaC identified in a patient with cystic fibrosis-like symptoms has a gain-of-function effect.
Am J Physiol Lung Cell Mol Physiol. 2013 Jan 1;304(1):L43-55. doi: 10.1152/ajplung.00093.2012. Epub 2012 Oct 19., [PubMed]
Sentences
No. Mutations Sentence Comment
377 ABCC7 p.Phe693Leu
X
ABCC7 p.Phe693Leu 23087020:377:142
status: NEW
view ABCC7 p.Phe693Leu details
 In this context, it is of interest that the patient reported by Mutesa et al. (39) was compound heterozygous for the betaV348M mutation and a F693L-CFTR mutation. Login to comment 378 ABCC7 p.Phe693Leu
X
ABCC7 p.Phe693Leu 23087020:378:4
status: NEW
view ABCC7 p.Phe693Leu details
 The F693L-CFTR mutation was described as a polymorphism that, compared with wild-type CFTR, did not affect channel maturation in COS1 cells or chloride transport ability in oocytes (57). Login to comment 379 ABCC7 p.Phe693Leu
X
ABCC7 p.Phe693Leu 23087020:379:38
status: NEW
view ABCC7 p.Phe693Leu details
 Therefore, it seems unlikely that the F693L-CFTR mutation alone is sufficient to cause the disease. Login to comment