ABCMdb

PMID: 24844148

Koldamova R, Fitz NF, Lefterov I
ATP-binding cassette transporter A1: from metabolism to neurodegeneration.
Neurobiol Dis. 2014 Dec;72 Pt A:13-21. doi: 10.1016/j.nbd.2014.05.007. Epub 2014 May 17., [PubMed]

Sentences

No. Mutations Sentence Comment

932 ABCA1 p.Asn1800His ABCA1 p.Gly1216Val ABCA1 p.Arg2144* ABCA1 p.Pro1065Ser For example, some of the ABCA1 missense mutations (P1065S, G1216V, N1800H, R2144X) cause only a mild decrease of cholesterol efflux which in heterozygous state results in a relatively small reduction of HDL (less than 30% decrease compared to the normal values) explaining the lack of atherosclerosis (Frikke-Schmidt et al., 2008). Login to comment 948 ABCA1 p.Arg230Cys A highly frequent non-synonymous variant of ABCA1 (R230C) was identified in a Mexican population and shown to associate with obesity and type 2 diabetes (Villarreal-Molina et al., 2008). Login to comment 978 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys R219K (rs2230806), I883M (rs4149313), and R1587K (rs2230808) are the non-synonymous variants most extensively investigated since they translate into amino acid changes and have been shown to associate with the risk for CAD. Login to comment 999 ABCA1 p.Asn935Ser N935S mutation was identified in a patient with extremely low levels of HDL, but without accelerated development of premature atherosclerosis and with signs of severe dementia and amyloid depositions in the brain at age of 60 (Walter et al., 1994a,b). Login to comment 1001 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The second example is a compound heterozygous mutation (D1099Y and F2009S) identified in a subject with severe HDL cholesterol deficiency (Ho Hong et al., 2002). Login to comment 1010 ABCA1 p.Glu1172Asp Importantly, the number of non-synonymous alleles of previously identified rare variant E1172D, known to be associated with very high HDL-C levels, was more than twice higher in the control compared to the case samples. Login to comment