PMID: 25381027

Collawn JF, Matalon S
CFTR and lung homeostasis.
Am J Physiol Lung Cell Mol Physiol. 2014 Dec 15;307(12):L917-23. doi: 10.1152/ajplung.00326.2014. Epub 2014 Nov 7., [PubMed]
Sentences
No. Mutations Sentence Comment
124 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 25381027:124:255
status: NEW
view ABCC7 p.Gly551Asp details
 Correctors are small molecules that have been shown to promote the correct folding of CFTR mutations, particularly èc;F508 CFTR, whereas potentiators are designed to increase the open probability of mutations that have a channel gating defect such as G551D CFTR. Login to comment 130 ABCC7 p.Val232Asp
X
ABCC7 p.Val232Asp 25381027:130:0
status: NEW
view ABCC7 p.Val232Asp details
 V232D is a rare folding mutation that can be corrected to near WT, maturely glycosylated protein levels with small molecule corrector Corr-4a (11). Login to comment