ABCMdb

PMID: 16183915

Oram JF, Heinecke JW
ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease.
Physiol Rev. 2005 Oct;85(4):1343-72., [PubMed]

Sentences

No. Mutations Sentence Comment

158 ABCA1 p.Trp590Ser One substitution mutation (W590S), however, severely reduces apolipoprotein-mediated lipid efflux without having much effect on apolipoprotein binding (73). Login to comment 159 ABCA1 p.Trp590Ser One substitution mutation (W590S), however, severely reduces apolipoprotein-mediated lipid efflux without having much effect on apolipoprotein binding (73). Login to comment 411 ABCA1 p.Gln597Arg ABCA1 p.Arg587Trp Some studies have suggested that ABCA1 proteins with substitution mutations Q597R and R587W in the first extracellular loop do not localize to the plasma membrane (232, 263), but other studies have contradicted these findings (73, 150). Login to comment 412 ABCA1 p.Gln597Arg ABCA1 p.Arg587Trp Some studies have suggested that ABCA1 proteins with substitution mutations Q597R and R587W in the first extracellular loop do not localize to the plasma membrane (232, 263), but other studies have contradicted these findings (73, 150). Login to comment 413 ABCA1 p.Trp590Ser Only one mutant (W590S) has been described that has near-normal apolipoprotein binding activity but defective lipid transport (73). Login to comment 414 ABCA1 p.Trp590Ser Only one mutant (W590S) has been described that has near-normal apolipoprotein binding activity but defective lipid transport (73). Login to comment 430 ABCA1 p.Arg219Lys The most studied of these SNPs is the R219K variant, with the K allele being associated with higher levels of HDL (255). Login to comment 431 ABCA1 p.Arg219Lys ABCA1 p.Val825Ile ABCA1 p.Val771Met The most studied of these SNPs is the R219K variant, with the K allele being associated with higher levels of HDL (255). Login to comment 432 ABCA1 p.Val825Ile ABCA1 p.Val771Met V771M and V825I SNPs have also been reported to be associated with increased HDL levels, whereas R1587K is associated with low levels of HDL (78, 255). Login to comment