ABCMdb

ABCA1 p.Arg1615Pro

Predicted by SNAP2:	A: D (80%), C: D (80%), D: D (91%), E: D (91%), F: D (85%), G: D (85%), H: N (61%), I: D (85%), K: D (63%), L: D (85%), M: D (66%), N: D (71%), P: D (85%), Q: D (66%), S: D (75%), T: D (75%), V: D (85%), W: D (75%), Y: D (85%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] R1615P: a novel mutation in ABCA1 associated with ... Int J Cardiol. 2006 Jun 16;110(2):259-60. Epub 2005 Aug 1. Saleheen D, Nazir A, Khanum S, Haider SR, Frossard PM
R1615P: a novel mutation in ABCA1 associated with low levels of HDL and type II diabetes mellitus.
Int J Cardiol. 2006 Jun 16;110(2):259-60. Epub 2005 Aug 1., [PMID:16055210]

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0 Letter to the Editor R1615P: A novel mutation in ABCA1 associated with low levels of HDL and type II diabetes mellitus Danish Saleheen*, Aisha Nazir, Shaheen Khanum, Shajjia R. Haider, Philippe M. Frossard Department of Biological and Biomedical Sciences, Medical College, Aga Khan University, Stadium Road, Karachi-74800, Pakistan Received 13 June 2005; accepted 25 June 2005 Available online 1 August 2005 Keywords: High density lipoprotein cholesterol; ABCA1; Mutation; R1615P Dear Sir, Low levels of high density lipoprotein-cholesterol (HDL-C) is an established risk factor for cardiovascular disorders and is independent of LDL and total cholesterol concentration in predicting the risk of disease [1]. Login to comment
21 International Journal of Cardiology 110 (2006) 259 - 260 www.elsevier.com/locate/ijcard (R1615P) (Fig. 1) and disrupted an MSPI restriction site as well. Login to comment
20 International Journal of Cardiology 110 (2006) - 260 www.elsevier.com/locate/ijcard (R1615P) (Fig. 1) and disrupted an MSPI restriction site as well. Login to comment

[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]

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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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946 R1615P: a novel mutation in ABCA1 associated with low levels of HDL and type II diabetes mellitus. Login to comment