ABCG5 p.Asp450His

Predicted by SNAP2: A: N (72%), C: N (61%), E: N (78%), F: N (61%), G: N (66%), H: N (61%), I: D (53%), K: N (53%), L: N (61%), M: D (53%), N: N (82%), P: D (63%), Q: N (66%), R: N (57%), S: N (82%), T: N (72%), V: D (53%), W: D (75%), Y: N (72%),
Predicted by PROVEAN: A: N, C: D, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Kenny EE, Gusev A, Riegel K, Lutjohann D, Lowe JK, Salit J, Maller JB, Stoffel M, Daly MJ, Altshuler DM, Friedman JM, Breslow JL, Pe'er I, Sehayek E
Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.
Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13886-91. Epub 2009 Aug 10., 2009-08-18 [PMID:19667188] [PubMed]

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[hide] Calandra S, Tarugi P, Speedy HE, Dean AF, Bertolini S, Shoulders CC
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
J Lipid Res. 2011 Nov;52(11):1885-926. doi: 10.1194/jlr.R017855. Epub 2011 Aug 23., [PMID:21862702] [PubMed]

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