ABCA1 p.Ser1506Leu

ClinVar: c.4517C>T , p.Ser1506Leu D , Pathogenic
Predicted by SNAP2: A: D (63%), C: D (66%), D: D (85%), E: D (75%), F: D (71%), G: D (71%), H: D (59%), I: D (75%), K: D (75%), L: D (75%), M: D (75%), N: D (71%), P: D (80%), Q: D (63%), R: D (75%), T: N (53%), V: D (71%), W: D (85%), Y: D (75%),
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, R: D, T: D, V: D, W: D, Y: D,

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Publications
[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] 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] 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] 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] 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, 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] 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] 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] 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] 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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