ABCB1 p.Ala947Val
| Predicted by SNAP2: | C: N (87%), D: D (75%), E: D (75%), F: D (71%), G: N (66%), H: D (75%), I: D (71%), K: D (80%), L: D (75%), M: D (66%), N: D (66%), P: D (80%), Q: D (75%), R: D (75%), S: N (82%), T: D (53%), V: D (66%), W: D (80%), Y: D (75%), |
| Predicted by PROVEAN: | C: N, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, T: D, V: D, W: D, Y: D, |
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[hide] Variations on a gene: rare and common variants in ... Annu Rev Nutr. 2006;26:105-29. Brunham LR, Singaraja RR, Hayden MR
Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis.
Annu Rev Nutr. 2006;26:105-29., [PMID:16704350]
Abstract [show]
Cholesterol and its metabolites play a variety of essential roles in living systems. Virtually all animal cells require cholesterol, which they acquire through synthesis or uptake, but only the liver can degrade cholesterol. The ABCA1 gene product regulates the rate-controlling step in the removal of cellular cholesterol: the efflux of cellular cholesterol and phospholipids to an apolipoprotein acceptor. Mutations in ABCA1, as seen in Tangier disease, result in accumulation of cellular cholesterol, reduced plasma high-density lipoprotein cholesterol, and increased risk for coronary artery disease. To date, more than 100 coding variants have been identified in ABCA1, and these variants result in a broad spectrum of biochemical and clinical phenotypes. Here we review genetic variation in ABCA1 and its critical role in cholesterol metabolism and atherosclerosis in the general population.
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No. Sentence Comment
550 However, a subset of mutations are associated with greater than 50% of control HDL levels, specifically T929I, A947V, R1680W, and W590S.
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ABCB1 p.Ala947Val 16704350:550:111
status: NEW