ABCMdb

PMID: 1375035

Welsh MJ, Anderson MP, Rich DP, Berger HA, Denning GM, Ostedgaard LS, Sheppard DN, Cheng SH, Gregory RJ, Smith AE
Cystic fibrosis transmembrane conductance regulator: a chloride channel with novel regulation.
Neuron. 1992 May;8(5):821-9., [PubMed]

Sentences

No. Mutations Sentence Comment

87 ABCC7 p.Lys335Glu ABCC7 p.Lys95Asp Yet two mutations, K95D and K335E, each altered anion selectivity. Login to comment 89 ABCC7 p.Lys95Asp Thus K95D means that lysine residue 95 was changed to aspartate.) Login to comment 91 ABCC7 p.Lys335Glu The two mutations were not, however, equivalent: unlike the changes in permeability, only K335E changed the conductivity sequence from BrZ Cl- > Ito Br- > I- > Cl-. Login to comment 92 ABCC7 p.Arg347Glu ABCC7 p.Arg1030Glu Mutation of 2 other basic residues, R347E and R1030E, did not change the selectivity sequence. Login to comment 136 ABCC7 p.Ser660Ala This point is illustrated by consideration of two mutants: in S737/795/813A, phosphorylation of Ser-660 ap- Review: The CFTR Cl-Channel pears to be sufficient to open the channel; yet in S660A, which lacks Ser-660 but retains Ser-737, -795, and -813, CAMP activates the channel. Login to comment 143 ABCC7 p.Ser660Ala However, CFTRAR retains Ser-660, and when a combined mutant, CFTRAR-S660A, was created, only constitutive channel activity was found; CAMP no longer caused a further increase in activity (Cheng et al., 1991). Login to comment 206 ABCC7 p.Ser660Ala Similar results were obtained with CFTRAR-S660A channels (unpublished data). Login to comment 215 ABCC7 p.Gly551Asp The defect in processing was not, however, observed in every CF-associated mutation: for example, G551D was fully glycosylated. Login to comment 225 ABCC7 p.Gly1349Asp For example, expression of CFTR-G1349D, containing a mutation in NBD2, generates a completely glycosylated protein and CAMP-regulated Cl-channels (Gregory et al., 1991). Login to comment