PMID: 23555974

Song C, Pedersen NL, Reynolds CA, Sabater-Lleal M, Kanoni S, Willenborg C, Syvanen AC, Watkins H, Hamsten A, Prince JA, Ingelsson E
Genetic variants from lipid-related pathways and risk for incident myocardial infarction.
PLoS One. 2013;8(3):e60454. doi: 10.1371/journal.pone.0060454. Epub 2013 Mar 29., [PubMed]
Sentences
No. Mutations Sentence Comment
107 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 23555974:107:114
status: NEW
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 rs4149313 is a non-synonymous SNP located in exon 18 of ABCA1, which encodes an amino acid substitution, Ile.Met (Ile883Met). Login to comment 108 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 23555974:108:0
status: NEW
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 Ile883Met is located at N-terminal of the first nucleotide-binding motif, suggesting its potential function on formatting stable structure of ATP-binding cassette. Login to comment 109 ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 23555974:109:86
status: NEW
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 In vitro experiments showed that cholesterol efflux in transfected 293 cells with the I883M variant significantly differed from wild-type cells[20], which supports the biological functionality of this variant. Login to comment 225 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 23555974:225:121
status: NEW
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ABCA1 p.Val771Met
X
ABCA1 p.Val771Met 23555974:225:131
status: NEW
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 Andrikovics H, Pongracz E, Kalina E, Szilvasi A, Aslanidis C, et al. (2006) Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases. Login to comment