ABCMdb

PMID: 12642355

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., [PubMed]

Sentences

No. Mutations Sentence Comment

79 ABCA1 p.Gln597Arg ABCA1 p.Cys1477Arg ABCA1 p.Arg909* ABCA1 p.Met1091Thr ABCA1 p.Thr929Ile ABCA1 p.Arg587Trp ABCA1 p.Arg2144* ABCA1 p.Pro2150Leu Molecular Characterization of ABCA1 Gene in Study Subjects Cell Lines HDL-C, mmol/L Nucleotide Change Predicted Protein Alteration TD CTL-1 0.10 Exon 30 T4369C; exon 24 splice site G3C C1477R; part of the transcript deleted TD CTL-2 0.15 Exon 13 A1730G Q597R FHD-1 0.40 Exon 14 èc;2017-9 èc;L693 FHD-2 0.18 Exon 48 C6370T R2144X FHD-3 0.39 Exon 41 èc;5618-23 èc;ED1893,4 FHD-4 0.18 Exon 18 C2665T R909X FHD-5 0.10 Exon 23 T3667C M1091T FHD-6 0.57 Exon 49 C6844T P2150L, R587W TD-1 0.03 Exon 48 èc;C6370; ND 2145X TD-2 0.07 ND ND TD-3 0.03 ND 2203X TD-4 0.09 Exon 19 C3181T; ND T929I; ND CTL indicates control. Login to comment 85 ABCA1 p.Gln597Arg ABCA1 p.Cys1477Arg ABCA1 p.Arg909* ABCA1 p.Met1091Thr ABCA1 p.Thr929Ile ABCA1 p.Arg587Trp ABCA1 p.Arg2144* ABCA1 p.Pro2150Leu Molecular Characterization of ABCA1 Gene in Study Subjects Cell Lines HDL-C, mmol/L Nucleotide Change Predicted Protein Alteration TD CTL-1 0.10 Exon 30 T4369C; exon 24 splice site G3C C1477R; part of the transcript deleted TD CTL-2 0.15 Exon 13 A1730G Q597R FHD-1 0.40 Exon 14 ⌬2017-9 ⌬L693 FHD-2 0.18 Exon 48 C6370T R2144X FHD-3 0.39 Exon 41 ⌬5618-23 ⌬ED1893,4 FHD-4 0.18 Exon 18 C2665T R909X FHD-5 0.10 Exon 23 T3667C M1091T FHD-6 0.57 Exon 49 C6844T P2150L, R587W TD-1 0.03 Exon 48 ⌬C6370; ND 2145X TD-2 0.07 ND ND TD-3 0.03 ND 2203X TD-4 0.09 Exon 19 C3181T; ND T929I; ND CTL indicates control. Login to comment