ABCA1 p.Ala937Val

ClinVar: c.2810C>T , p.Ala937Val D , Pathogenic
Predicted by SNAP2: C: D (53%), D: D (91%), E: D (85%), F: D (80%), G: D (75%), H: D (80%), I: D (66%), K: D (85%), L: D (80%), M: D (75%), N: D (80%), P: D (80%), Q: D (80%), R: D (85%), S: D (59%), T: D (66%), V: D (71%), W: D (80%), Y: D (80%),
Predicted by PROVEAN: 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, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Lee JY, Karwatsky J, Ma L, Zha X
ABCA1 increases extracellular ATP to mediate cholesterol efflux to ApoA-I.
Am J Physiol Cell Physiol. 2011 Oct;301(4):C886-94. Epub 2011 Jun 22., [PMID:21697542]

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[hide] Nandi S, Ma L, Denis M, Karwatsky J, Li Z, Jiang XC, Zha X
ABCA1-mediated cholesterol efflux generates microparticles in addition to HDL through processes governed by membrane rigidity.
J Lipid Res. 2009 Mar;50(3):456-66. Epub 2008 Oct 21., [PMID:18941142]

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[hide] Vaughan AM, Tang C, Oram JF
ABCA1 mutants reveal an interdependency between lipid export function, apoA-I binding activity, and Janus kinase 2 activation.
J Lipid Res. 2009 Feb;50(2):285-92. Epub 2008 Sep 5., [PMID:18776170]

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[hide] Nagao K, Takahashi K, Hanada K, Kioka N, Matsuo M, Ueda K
Enhanced apoA-I-dependent cholesterol efflux by ABCA1 from sphingomyelin-deficient Chinese hamster ovary cells.
J Biol Chem. 2007 May 18;282(20):14868-74. Epub 2007 Apr 3., [PMID:17409096]

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[hide] Landry YD, Denis M, Nandi S, Bell S, Vaughan AM, Zha X
ATP-binding cassette transporter A1 expression disrupts raft membrane microdomains through its ATPase-related functions.
J Biol Chem. 2006 Nov 24;281(47):36091-101. Epub 2006 Sep 19., [PMID:16984907]

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[hide] 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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[hide] Brunham LR, Singaraja RR, Pape TD, Kejariwal A, Thomas PD, Hayden MR
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
PLoS Genet. 2005 Dec;1(6):e83. Epub 2005 Dec 30., [PMID:16429166]

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[hide] Singaraja RR, Brunham LR, Visscher H, Kastelein JJ, Hayden MR
Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.
Arterioscler Thromb Vasc Biol. 2003 Aug 1;23(8):1322-32. Epub 2003 May 22., [PMID:12763760]

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[hide] Miller M, Rhyne J, Hamlette S, Birnbaum J, Rodriguez A
Genetics of HDL regulation in humans.
Curr Opin Lipidol. 2003 Jun;14(3):273-9., [PMID:12840658]

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[hide] Guo Z, Inazu A, Yu W, Suzumura T, Okamoto M, Nohara A, Higashikata T, Sano R, Wakasugi K, Hayakawa T, Yoshida K, Suehiro T, Schmitz G, Mabuchi H
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.
J Hum Genet. 2002;47(6):325-9., [PMID:12111381]

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[hide] Ma L, Dong F, Zaid M, Kumar A, Zha X
ABCA1 protein enhances Toll-like receptor 4 (TLR4)-stimulated interleukin-10 (IL-10) secretion through protein kinase A (PKA) activation.
J Biol Chem. 2012 Nov 23;287(48):40502-12. doi: 10.1074/jbc.M112.413245. Epub 2012 Oct 10., [PMID:23055522]

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[hide] Dong F, Mo Z, Eid W, Courtney KC, Zha X
Akt inhibition promotes ABCA1-mediated cholesterol efflux to ApoA-I through suppressing mTORC1.
PLoS One. 2014 Nov 21;9(11):e113789. doi: 10.1371/journal.pone.0113789. eCollection 2014., [PMID:25415591]

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