ABCMdb

PMID: 24685677

Pranke IM, Sermet-Gaudelus I
Biosynthesis of cystic fibrosis transmembrane conductance regulator.
Int J Biochem Cell Biol. 2014 Jul;52:26-38. doi: 10.1016/j.biocel.2014.03.020. Epub 2014 Mar 28., [PubMed]

Sentences

No. Mutations Sentence Comment

1372 ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Tyr122* The nonsense and frameshift mutations, belonging to the Class I, lead to creation of premature termination codons (PTCs) such as W1282X, G542X, Y122X, and result either in the synthesis of truncated and unstable protein or in the decrease of the half-lives of mutant mRNAs. Login to comment 1376 ABCC7 p.Gly576Ala ABCC7 p.Asp565Gly These splicing mutations (e.g. 3849 + 10 kb C ࢐ T, 3272-26 A ࢐ G, IVS8-5T, D565G and G576A) lead to variable levels of correctly spliced transcripts among different patients and among different organs of the same patient. Login to comment 1442 ABCC7 p.Arg1070Trp ABCC7 p.Ile539Thr ABCC7 p.Gly550Glu ABCC7 p.Arg553Met ABCC7 p.Arg555Lys Mutations located in NBD1, such as I539T, G550E, R553M/Q and R555K, as well as R1070W in CL4 of MSD2 promote Phe508del-CFTR maturation and trafficking to the cell surface and also restore channel activity (DeCarvalho et al., 2002; Teem et al., 1993, 1996; Thibodeau et al., 2010). Login to comment 1443 ABCC7 p.Val510Asp The V510D suppressor mutation increased the half-life of mature Phe508del-CFTR at the cell surface (Loo et al., 2010). Login to comment 1536 ABCC7 p.Gly85Glu It was reported that Derlin1- and p97-containing complexes mediate the retro-translocation of both misfolded WT and mutant CFTR (Phe508del and Gly85Glu). Login to comment 1660 ABCC7 p.Gly551Asp Last year, one of these compounds, Ivacaftor, was approved by FDA for patients carrying the G551D mutation, thus becoming the first available treatment to directly address the basic defect of the disease. Login to comment