ABCA1 p.Cys1477Arg

ClinVar: c.4429T>C , p.Cys1477Arg D , Pathogenic
Predicted by SNAP2: A: D (71%), D: D (91%), E: D (85%), F: D (85%), G: D (85%), H: D (85%), I: D (80%), K: D (91%), L: D (80%), M: D (80%), N: D (80%), P: D (91%), Q: D (80%), R: D (91%), S: D (80%), T: D (80%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: 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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[hide] Smith B, Land H
Anticancer Activity of the Cholesterol Exporter ABCA1 Gene.
Cell Rep. 2012 Sep 27;2(3):580-90. doi: 10.1016/j.celrep.2012.08.011. Epub 2012 Sep 13., [PMID:22981231]

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[hide] Liu Y, Tang C
Regulation of ABCA1 functions by signaling pathways.
Biochim Biophys Acta. 2012 Mar;1821(3):522-9. doi: 10.1016/j.bbalip.2011.08.015. Epub 2011 Sep 5., [PMID:21920460]

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[hide] Tietjen I, Hovingh GK, Singaraja R, Radomski C, McEwen J, Chan E, Mattice M, Legendre A, Kastelein JJ, Hayden MR
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.
Biochim Biophys Acta. 2012 Mar;1821(3):416-24. doi: 10.1016/j.bbalip.2011.08.006. Epub 2011 Aug 19., [PMID:21875686]

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[hide] Nagao K, Tomioka M, Ueda K
Function and regulation of ABCA1--membrane meso-domain organization and reorganization.
FEBS J. 2011 Sep;278(18):3190-203. doi: 10.1111/j.1742-4658.2011.08170.x. Epub 2011 Jun 13., [PMID:21554545]

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[hide] Daniil G, Phedonos AA, Holleboom AG, Motazacker MM, Argyri L, Kuivenhoven JA, Chroni A
Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.
Clin Chim Acta. 2011 Jun 11;412(13-14):1213-20. Epub 2011 Mar 21., [PMID:21420943]

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[hide] Karuna R, Holleboom AG, Motazacker MM, Kuivenhoven JA, Frikke-Schmidt R, Tybjaerg-Hansen A, Georgopoulos S, van Eck M, van Berkel TJ, von Eckardstein A, Rentsch KM
Plasma levels of 27-hydroxycholesterol in humans and mice with monogenic disturbances of high density lipoprotein metabolism.
Atherosclerosis. 2011 Feb;214(2):448-55. Epub 2010 Nov 3., [PMID:21130455]

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[hide] Candini C, Schimmel AW, Peter J, Bochem AE, Holleboom AG, Vergeer M, Dullaart RP, Dallinga-Thie GM, Hovingh GK, Khoo KL, Fasano T, Bocchi L, Calandra S, Kuivenhoven JA, Motazacker MM
Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.
Atherosclerosis. 2010 Dec;213(2):492-8. Epub 2010 Aug 26., [PMID:20880529]

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[hide] Vergeer M, Brunham LR, Koetsveld J, Kruit JK, Verchere CB, Kastelein JJ, Hayden MR, Stroes ES
Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction.
Diabetes Care. 2010 Apr;33(4):869-74. Epub 2010 Jan 12., [PMID:20067955]

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[hide] Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C.
Atherosclerosis. 2010 Mar;209(1):163-6. Epub 2009 Aug 29., [PMID:19765707]

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[hide] Kang MH, Singaraja R, Hayden MR
Adenosine-triphosphate-binding cassette transporter-1 trafficking and function.
Trends Cardiovasc Med. 2010 Feb;20(2):41-9., [PMID:20656214]

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[hide] Maekawa M, Kikuchi J, Kotani K, Nagao K, Odgerel T, Ueda K, Kawano M, Furukawa Y, Sakurabayashi I
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease.
Atherosclerosis. 2009 Sep;206(1):216-22. Epub 2009 Feb 25., [PMID:19344898]

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[hide] Hozoji M, Kimura Y, Kioka N, Ueda K
Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1.
J Biol Chem. 2009 Apr 24;284(17):11293-300. Epub 2009 Mar 3., [PMID:19258317]

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[hide] Pisciotta L, Bocchi L, Candini C, Sallo R, Zanotti I, Fasano T, Chakrapani A, Bates T, Bonardi R, Cantafora A, Ball S, Watts G, Bernini F, Calandra S, Bertolini S
Severe HDL deficiency due to novel defects in the ABCA1 transporter.
J Intern Med. 2009 Mar;265(3):359-72. Epub 2008 Oct 25., [PMID:19019193]

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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] Iatan I, Alrasadi K, Ruel I, Alwaili K, Genest J
Effect of ABCA1 mutations on risk for myocardial infarction.
Curr Atheroscler Rep. 2008 Oct;10(5):413-26., [PMID:18706283]

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[hide] Hassan HH, Bailey D, Lee DY, Iatan I, Hafiane A, Ruel I, Krimbou L, Genest J
Quantitative analysis of ABCA1-dependent compartmentalization and trafficking of apolipoprotein A-I: implications for determining cellular kinetics of nascent high density lipoprotein biogenesis.
J Biol Chem. 2008 Apr 25;283(17):11164-75. Epub 2008 Jan 24., [PMID:18218626]

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[hide] Mukhamedova N, Fu Y, Bukrinsky M, Remaley AT, Sviridov D
The role of different regions of ATP-binding cassette transporter A1 in cholesterol efflux.
Biochemistry. 2007 Aug 21;46(33):9388-98. Epub 2007 Jul 26., [PMID:17655203]

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[hide] Kiss RS, Kavaslar N, Okuhira K, Freeman MW, Walter S, Milne RW, McPherson R, Marcel YL
Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects.
Arterioscler Thromb Vasc Biol. 2007 May;27(5):1139-45. Epub 2007 Feb 15., [PMID:17303779]

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[hide] Singaraja RR, Visscher H, James ER, Chroni A, Coutinho JM, Brunham LR, Kang MH, Zannis VI, Chimini G, Hayden MR
Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro.
Circ Res. 2006 Aug 18;99(4):389-97. Epub 2006 Jul 27., [PMID:16873719]

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[hide] Trompier D, Alibert M, Davanture S, Hamon Y, Pierres M, Chimini G
Transition from dimers to higher oligomeric forms occurs during the ATPase cycle of the ABCA1 transporter.
J Biol Chem. 2006 Jul 21;281(29):20283-90. Epub 2006 May 18., [PMID:16709568]

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[hide] Krimbou L, Marcil M, Genest J
New insights into the biogenesis of human high-density lipoproteins.
Curr Opin Lipidol. 2006 Jun;17(3):258-67., [PMID:16680030]

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[hide] Nofer JR, Remaley AT, Feuerborn R, Wolinnska I, Engel T, von Eckardstein A, Assmann G
Apolipoprotein A-I activates Cdc42 signaling through the ABCA1 transporter.
J Lipid Res. 2006 Apr;47(4):794-803. Epub 2006 Jan 28., [PMID:16443932]

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[hide] Zannis VI, Chroni A, Krieger M
Role of apoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL.
J Mol Med (Berl). 2006 Apr;84(4):276-94. Epub 2006 Feb 25., [PMID:16501936]

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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] Krimbou L, Hajj Hassan H, Blain S, Rashid S, Denis M, Marcil M, Genest J
Biogenesis and speciation of nascent apoA-I-containing particles in various cell lines.
J Lipid Res. 2005 Aug;46(8):1668-77. Epub 2005 May 16., [PMID:15897603]

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[hide] O'Connell BJ, Denis M, Genest J
Cellular physiology of cholesterol efflux in vascular endothelial cells.
Circulation. 2004 Nov 2;110(18):2881-8. Epub 2004 Oct 18., [PMID:15492319]

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[hide] Denis M, Haidar B, Marcil M, Bouvier M, Krimbou L, Genest J
Characterization of oligomeric human ATP binding cassette transporter A1. Potential implications for determining the structure of nascent high density lipoprotein particles.
J Biol Chem. 2004 Oct 1;279(40):41529-36. Epub 2004 Jul 26., [PMID:15280376]

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[hide] Selva DM, Hirsch-Reinshagen V, Burgess B, Zhou S, Chan J, McIsaac S, Hayden MR, Hammond GL, Vogl AW, Wellington CL
The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.
J Lipid Res. 2004 Jun;45(6):1040-50. Epub 2004 Mar 16., [PMID:15026428]

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[hide] Albrecht C, Baynes K, Sardini A, Schepelmann S, Eden ER, Davies SW, Higgins CF, Feher MD, Owen JS, Soutar AK
Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.
Biochim Biophys Acta. 2004 May 24;1689(1):47-57., [PMID:15158913]

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[hide] Krimbou L, Denis M, Haidar B, Carrier M, Marcil M, Genest J Jr
Molecular interactions between apoE and ABCA1: impact on apoE lipidation.
J Lipid Res. 2004 May;45(5):839-48. Epub 2004 Feb 1., [PMID:14754908]

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[hide] Haidar B, Denis M, Marcil M, Krimbou L, Genest J Jr
Apolipoprotein A-I activates cellular cAMP signaling through the ABCA1 transporter.
J Biol Chem. 2004 Mar 12;279(11):9963-9. Epub 2003 Dec 29., [PMID:14701824]

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[hide] Hovingh GK, Kuivenhoven JA, Bisoendial RJ, Groen AK, van Dam M, van Tol A, Wellington C, Hayden MR, Smelt AH, Kastelein JJ
HDL deficiency and atherosclerosis: lessons from Tangier disease.
J Intern Med. 2004 Feb;255(2):299-301., [PMID:14746569]

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[hide] Kuivenhoven JA, Hovingh GK, van Tol A, Jauhiainen M, Ehnholm C, Fruchart JC, Brinton EA, Otvos JD, Smelt AH, Brownlee A, Zwinderman AH, Hayden MR, Kastelein JJ
Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size.
Atherosclerosis. 2003 Dec;171(2):311-9., [PMID:14644402]

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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] Hovingh GK, Van Wijland MJ, Brownlie A, Bisoendial RJ, Hayden MR, Kastelein JJ, Groen AK
The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia.
J Lipid Res. 2003 Jun;44(6):1251-5. Epub 2003 Apr 16., [PMID:12700344]

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[hide] Zha X, Gauthier A, Genest J, McPherson R
Secretory vesicular transport from the Golgi is altered during ATP-binding cassette protein A1 (ABCA1)-mediated cholesterol efflux.
J Biol Chem. 2003 Mar 21;278(12):10002-5. Epub 2003 Jan 27., [PMID:12551894]

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[hide] Marcil M, Bissonnette R, Vincent J, Krimbou L, Genest J
Cellular phospholipid and cholesterol efflux in high-density lipoprotein deficiency.
Circulation. 2003 Mar 18;107(10):1366-71., [PMID:12642355]

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[hide] Haidar B, Denis M, Krimbou L, Marcil M, Genest J Jr
cAMP induces ABCA1 phosphorylation activity and promotes cholesterol efflux from fibroblasts.
J Lipid Res. 2002 Dec;43(12):2087-94., [PMID:12454270]

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[hide] Rigot V, Hamon Y, Chambenoit O, Alibert M, Duverger N, Chimini G
Distinct sites on ABCA1 control distinct steps required for cellular release of phospholipids.
J Lipid Res. 2002 Dec;43(12):2077-86., [PMID:12454269]

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[hide] Wellington CL, Yang YZ, Zhou S, Clee SM, Tan B, Hirano K, Zwarts K, Kwok A, Gelfer A, Marcil M, Newman S, Roomp K, Singaraja R, Collins J, Zhang LH, Groen AK, Hovingh K, Brownlie A, Tafuri S, Genest J Jr, Kastelein JJ, Hayden MR
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol.
J Lipid Res. 2002 Nov;43(11):1939-49., [PMID:12401893]

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[hide] Fitzgerald ML, Morris AL, Rhee JS, Andersson LP, Mendez AJ, Freeman MW
Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.
J Biol Chem. 2002 Sep 6;277(36):33178-87. Epub 2002 Jun 25., [PMID:12084722]

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[hide] van Dam MJ, de Groot E, Clee SM, Hovingh GK, Roelants R, Brooks-Wilson A, Zwinderman AH, Smit AJ, Smelt AH, Groen AK, Hayden MR, Kastelein JJ
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study.
Lancet. 2002 Jan 5;359(9300):37-42., [PMID:11809185]

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[hide] Bochem AE, van Wijk DF, Holleboom AG, Duivenvoorden R, Motazacker MM, Dallinga-Thie GM, de Groot E, Kastelein JJ, Nederveen AJ, Hovingh GK, Stroes ES
ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden.
Eur Heart J. 2013 Jan;34(4):286-91. doi: 10.1093/eurheartj/ehs376. Epub 2012 Nov 7., [PMID:23136402]

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[hide] Lyssenko NN, Nickel M, Tang C, Phillips MC
Factors controlling nascent high-density lipoprotein particle heterogeneity: ATP-binding cassette transporter A1 activity and cell lipid and apolipoprotein AI availability.
FASEB J. 2013 Jul;27(7):2880-92. doi: 10.1096/fj.12-216564. Epub 2013 Mar 29., [PMID:23543682]

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[hide] Wang S, Gulshan K, Brubaker G, Hazen SL, Smith JD
ABCA1 mediates unfolding of apolipoprotein AI N terminus on the cell surface before lipidation and release of nascent high-density lipoprotein.
Arterioscler Thromb Vasc Biol. 2013 Jun;33(6):1197-205. doi: 10.1161/ATVBAHA.112.301195. Epub 2013 Apr 4., [PMID:23559627]

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[hide] Mineo C, Shaul PW
Regulation of signal transduction by HDL.
J Lipid Res. 2013 Sep;54(9):2315-24. doi: 10.1194/jlr.R039479. Epub 2013 May 18., [PMID:23687307]

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[hide] Quazi F, Molday RS
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
J Biol Chem. 2013 Nov 29;288(48):34414-26. doi: 10.1074/jbc.M113.508812. Epub 2013 Oct 4., [PMID:24097981]

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[hide] Gulshan K, Brubaker G, Wang S, Hazen SL, Smith JD
Sphingomyelin depletion impairs anionic phospholipid inward translocation and induces cholesterol efflux.
J Biol Chem. 2013 Dec 27;288(52):37166-79. doi: 10.1074/jbc.M113.512244. Epub 2013 Nov 12., [PMID:24220029]

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[hide] Koopal C, Visseren FL, Kastelein JJ, Westerink J
Premature atherosclerosis, extremely low HDL-cholesterol and concurrent defects in APOA1 and ABCA1 genes: a family case report.
Int J Cardiol. 2014 Nov 15;177(1):e19-21. doi: 10.1016/j.ijcard.2014.07.172. Epub 2014 Aug 4., [PMID:25127959]

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[hide] van Capelleveen JC, Kootte RS, Hovingh GK, Bochem AE
Myocardial infarction in a 36-year-old man with combined ABCA1 and APOA-1 deficiency.
J Clin Lipidol. 2015 May-Jun;9(3):396-9. doi: 10.1016/j.jacl.2015.01.006. Epub 2015 Jan 28., [PMID:26073400]

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[hide] Ito A, Hong C, Rong X, Zhu X, Tarling EJ, Hedde PN, Gratton E, Parks J, Tontonoz P
LXRs link metabolism to inflammation through Abca1-dependent regulation of membrane composition and TLR signaling.
Elife. 2015 Jul 14;4:e08009. doi: 10.7554/eLife.08009., [PMID:26173179]

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