ABCMdb

PMID: 1379244

Denning GM, Ostedgaard LS, Welsh MJ
Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia.
J Cell Biol. 1992 Aug;118(3):551-9., [PubMed]

Sentences

No. Mutations Sentence Comment

154 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The genotype of the CF cells was AF508/N1303K for CF1 and CF4, AF508/G542X for CF2, AF508/other for CF3, and other/other for CF5. Login to comment 156 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The N1303K and G542X mutations are two of the more common non-AF508 mutations (see ref. Login to comment 157 ABCC7 p.Asn1303Lys As with CFTRAF508, CFTR-N1303K is not appropriately glycosylated in a recombinant system (9, 19). Login to comment 158 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* As with CFTRAF508, CFTR-N1303K is not appropriately glycosylated in a recombinant system (9, 19). Login to comment 159 ABCC7 p.Gly542* ABCC7 p.Gly542* We expect that CFTR-G542X is a truncated protein or, if the levels of mRNA are decreased (20), that there is no G542X protein at all. Login to comment 162 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Thus, we conclude that some mutant CFTR proteins, including CFTRAF508, CFTR-N1303K, CFTR-G542X, and at least one other mutant CFTR, are not present or are present at greatly reduced amounts in the apical membrane of these CF epithelia. Login to comment 163 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Thus, we conclude that some mutant CFTR proteins, including CFTRAF508, CFTR-N1303K, CFTR-G542X, and at least one other mutant CFTR, are not present or are present at greatly reduced amounts in the apical membrane of these CF epithelia. Login to comment 208 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* This conclusion is valid for CFTRAF508, CFTR- Denning et al. Abnormal Localization of CFTRin CFAirway Epithelia N1303K, CFTR-G542X, and at least one other undetermined mutation. Login to comment 211 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* This conclusion is valid for CFTRAF508, CFTR- Denning et al. Abnormal Localization of CFTRin CFAirway Epithelia N1303K, CFTR-G542X, and at least one other undetermined mutation. Login to comment