ABCA1 p.Val825Ile

Predicted by SNAP2: A: N (78%), C: N (87%), D: D (53%), E: N (61%), F: D (71%), G: N (66%), H: N (61%), I: N (82%), K: D (85%), L: N (82%), M: N (87%), N: N (61%), P: N (57%), Q: N (72%), R: N (57%), S: N (78%), T: N (78%), W: N (78%), Y: N (82%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: N, R: D, S: N, T: N, W: D, Y: N,

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[hide] Sun YM, Li HL, Guo QH, Wu P, Hong Z, Lu CZ, Wu ZY
The polymorphism of the ATP-binding cassette transporter 1 gene modulates Alzheimer disease risk in Chinese Han ethnic population.
Am J Geriatr Psychiatry. 2012 Jul;20(7):603-11., [PMID:22377775]

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[hide] Aguilar-Salinas CA, Canizales-Quinteros S, Rojas-Martinez R, Mehta R, Rodriguez-Guillen R, Ordonez-Sanchez ML, Riba L, Tusie-Luna MT
The non-synonymous Arg230Cys variant (R230C) of the ATP-binding cassette transporter A1 is associated with low HDL cholesterol concentrations in Mexican adults: a population based nation wide study.
Atherosclerosis. 2011 May;216(1):146-50. Epub 2011 Jan 22., [PMID:21315358]

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[hide] Cao XL, Yin RX, Wu DF, Miao L, Aung LH, Hu XJ, Li Q, Yan TT, Lin WX, Pan SL
Genetic variant of V825I in the ATP-binding cassette transporter A1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.
Lipids Health Dis. 2011 Jan 19;10:14., [PMID:21247457]

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[hide] Berge KE, Leren TP
Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol.
Clin Chim Acta. 2010 Dec 14;411(23-24):2019-23. Epub 2010 Aug 25., [PMID:20800056]

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[hide] Rejeb J, Omezzine A, Rebhi L, Boumaiza I, Kchock K, Belkahla R, Rejeb NB, Nabli N, Abdelaziz AB, Boughzala E, Bouslama A
Associations between common polymorphisms of adenosine triphosphate-binding cassette transporter A1 and coronary artery disease in a Tunisian population.
Arch Cardiovasc Dis. 2010 Oct;103(10):530-7. Epub 2010 Nov 20., [PMID:21130966]

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[hide] Wang N, Xue XH, Lin Y, Fang L, Murong S, Wu ZY
The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population.
Neurobiol Aging. 2010 Apr;31(4):647-53. Epub 2008 Jul 14., [PMID:18621447]

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[hide] Frikke-Schmidt R
Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.
Atherosclerosis. 2010 Feb;208(2):305-16. Epub 2009 Jun 11., [PMID:19596329]

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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] Slatter TL, Jones GT, Williams MJ, van Rij AM, McCormick SP
Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels.
Clin Genet. 2008 Feb;73(2):179-84., [PMID:18199144]

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[hide] Frikke-Schmidt R, Nordestgaard BG, Jensen GB, Steffensen R, Tybjaerg-Hansen A
Genetic variation in ABCA1 predicts ischemic heart disease in the general population.
Arterioscler Thromb Vasc Biol. 2008 Jan;28(1):180-6. Epub 2007 Oct 19., [PMID:17951323]

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[hide] Klos KL, Kullo IJ
Genetic determinants of HDL: monogenic disorders and contributions to variation.
Curr Opin Cardiol. 2007 Jul;22(4):344-51., [PMID:17556888]

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[hide] Kyriakou T, Pontefract DE, Viturro E, Hodgkinson CP, Laxton RC, Bogari N, Cooper G, Davies M, Giblett J, Day IN, Simpson IA, Albrecht C, Ye S
Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients.
Hum Mol Genet. 2007 Jun 15;16(12):1412-22. Epub 2007 Apr 5., [PMID:17412755]

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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] Wahrle SE, Shah AR, Fagan AM, Smemo S, Kauwe JS, Grupe A, Hinrichs A, Mayo K, Jiang H, Thal LJ, Goate AM, Holtzman DM
Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.
Mol Neurodegener. 2007 Apr 12;2:7., [PMID:17430597]

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[hide] Mantaring M, Rhyne J, Ho Hong S, Miller M
Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype.
Transl Res. 2007 Apr;149(4):205-10., [PMID:17383594]

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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] Katzov H, Bennet AM, Hoglund K, Wiman B, Lutjohann D, Brookes AJ, Andreasen N, Blennow K, De Faire U, Prince JA
Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels.
J Hum Genet. 2006;51(3):171-9. Epub 2005 Dec 22., [PMID:16372134]

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[hide] Hodoglugil U, Williamson DW, Huang Y, Mahley RW
Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks.
Atherosclerosis. 2005 Dec;183(2):199-212. Epub 2005 Jun 2., [PMID:15935359]

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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] Frikke-Schmidt R, Nordestgaard BG, Schnohr P, Steffensen R, Tybjaerg-Hansen A
Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population.
J Am Coll Cardiol. 2005 Oct 18;46(8):1516-20. Epub 2005 Sep 23., [PMID:16226177]

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[hide] Oram JF, Heinecke JW
ATP-binding cassette transporter A1: a cell cholesterol exporter that protects against cardiovascular disease.
Physiol Rev. 2005 Oct;85(4):1343-72., [PMID:16183915]

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[hide] Kyriakou T, Hodgkinson C, Pontefract DE, Iyengar S, Howell WM, Wong YK, Eriksson P, Ye S
Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis.
Arterioscler Thromb Vasc Biol. 2005 Feb;25(2):418-23. Epub 2004 Nov 4., [PMID:15528481]

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[hide] Tregouet DA, Ricard S, Nicaud V, Arnould I, Soubigou S, Rosier M, Duverger N, Poirier O, Mace S, Kee F, Morrison C, Denefle P, Tiret L, Evans A, Deleuze JF, Cambien F
In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction.
Arterioscler Thromb Vasc Biol. 2004 Apr;24(4):775-81. Epub 2004 Feb 12., [PMID:14962947]

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[hide] Katzov H, Chalmers K, Palmgren J, Andreasen N, Johansson B, Cairns NJ, Gatz M, Wilcock GK, Love S, Pedersen NL, Brookes AJ, Blennow K, Kehoe PG, Prince JA
Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism.
Hum Mutat. 2004 Apr;23(4):358-67., [PMID:15024730]

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[hide] Yamakawa-Kobayashi K, Yanagi H, Yu Y, Endo K, Arinami T, Hamaguchi H
Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged children.
Metabolism. 2004 Feb;53(2):182-6., [PMID:14767869]

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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] Tan JH, Low PS, Tan YS, Tong MC, Saha N, Yang H, Heng CK
ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.
Hum Genet. 2003 Jul;113(2):106-17. Epub 2003 Apr 23., [PMID:12709788]

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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] Clee SM, Zwinderman AH, Engert JC, Zwarts KY, Molhuizen HO, Roomp K, Jukema JW, van Wijland M, van Dam M, Hudson TJ, Brooks-Wilson A, Genest J Jr, Kastelein JJ, Hayden MR
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.
Circulation. 2001 Mar 6;103(9):1198-205., [PMID:11238261]

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[hide] Iida A, Saito S, Sekine A, Kitamura Y, Kondo K, Mishima C, Osawa S, Harigae S, Nakamura Y
High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene.
J Hum Genet. 2001;46(9):522-8., [PMID:11558901]

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[hide] Ksiazek J, Ciechanowicz A, Wierzbicka A, Syczewska M, Grenda R
Is dyslipidemia sustained during remission of nephrotic syndrome genetically determined? Evaluation of genetic polymorphisms of proteins involved in lipoprotein metabolism in children and adolescents with nephrotic syndrome.
Pol Arch Med Wewn. 2009 Jan-Feb;119(1-2):11-6., [PMID:19341173]

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[hide] Villarreal-Molina T, Posadas-Romero C, Romero-Hidalgo S, Antunez-Arguelles E, Bautista-Grande A, Vargas-Alarcon G, Kimura-Hayama E, Canizales-Quinteros S, Juarez-Rojas JG, Posadas-Sanchez R, Cardoso-Saldana G, Medina-Urrutia A, Gonzalez-Salazar Mdel C, Martinez-Alvarado R, Jorge-Galarza E, Carnevale A
The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
PLoS One. 2012;7(11):e49285. doi: 10.1371/journal.pone.0049285. Epub 2012 Nov 9., [PMID:23152888]

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[hide] Wu Y, Waite LL, Jackson AU, Sheu WH, Buyske S, Absher D, Arnett DK, Boerwinkle E, Bonnycastle LL, Carty CL, Cheng I, Cochran B, Croteau-Chonka DC, Dumitrescu L, Eaton CB, Franceschini N, Guo X, Henderson BE, Hindorff LA, Kim E, Kinnunen L, Komulainen P, Lee WJ, Le Marchand L, Lin Y, Lindstrom J, Lingaas-Holmen O, Mitchell SL, Narisu N, Robinson JG, Schumacher F, Stancakova A, Sundvall J, Sung YJ, Swift AJ, Wang WC, Wilkens L, Wilsgaard T, Young AM, Adair LS, Ballantyne CM, Buzkova P, Chakravarti A, Collins
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.
PLoS Genet. 2013 Mar;9(3):e1003379. doi: 10.1371/journal.pgen.1003379. Epub 2013 Mar 21., [PMID:23555291]

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[hide] Nakamura A, Niimura H, Kuwabara K, Takezaki T, Morita E, Wakai K, Hamajima N, Nishida Y, Turin TC, Suzuki S, Ohnaka K, Uemura H, Ozaki E, Hosono S, Mikami H, Kubo M, Tanaka H
Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.
PLoS One. 2013 Dec 20;8(12):e82046. doi: 10.1371/journal.pone.0082046. eCollection 2013., [PMID:24376512]

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[hide] Westerterp M, Bochem AE, Yvan-Charvet L, Murphy AJ, Wang N, Tall AR
ATP-binding cassette transporters, atherosclerosis, and inflammation.
Circ Res. 2014 Jan 3;114(1):157-70. doi: 10.1161/CIRCRESAHA.114.300738., [PMID:24385509]

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[hide] Yin YW, Li JC, Gao D, Chen YX, Li BH, Wang JZ, Liu Y, Liao SQ, Zhang MJ, Gao CY, Zhang LL
Influence of ATP-binding cassette transporter 1 R219K and M883I polymorphisms on development of atherosclerosis: a meta-analysis of 58 studies.
PLoS One. 2014 Jan 23;9(1):e86480. doi: 10.1371/journal.pone.0086480. eCollection 2014., [PMID:24466114]

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[hide] Yin YW, Wang Q, Sun QQ, Hu AM, Liu HL
ATP-binding cassette transporter 1 C69T and V825I polymorphisms in the development of atherosclerosis: a meta-analysis of 18,320 subjects.
Thromb Res. 2015 Jan;135(1):130-6. doi: 10.1016/j.thromres.2014.10.022. Epub 2014 Nov 4., [PMID:25527331]

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