ABCMdb

PMID: 12454270

Haidar B, Denis M, Krimbou L, Marcil M, Genest J Jr
cAMP induces ABCA1 phosphorylation activity and promotes cholesterol efflux from fibroblasts.
J Lipid Res. 2002 Dec;43(12):2087-94., [PubMed]

Sentences

No. Mutations Sentence Comment

176 ABCA1 p.Gln597Arg ABCA1 p.Gln597Arg ABCA1 p.Cys1477Arg ABCA1 p.Cys1477Arg ABCA1 p.Arg909* ABCA1 p.Arg909* ABCA1 p.Arg2144* ABCA1 p.Arg2144* Molecular characterization of ABCA1 gene in study subjects Cell Lines HDL-C Nucleotide Change Predicted Protein Alteration mmol/l CTR1 1.63 - - CTR2 1.20 - - FHD1 0.27 Exon 14 ⌬2017-9 ⌬L693 FHD2 0.18 Exon 18 C2665T R909X FHD3 0.39 Exon 41 ⌬5618-23 ⌬ED1893,4 FHD4 0.18 Exon 48 C6370T R2144X FHD5 0.09 Exon 36 GG5277,8C fs 1628G, Q1636X TD1 Ͻ0.1 Exon 30 T4369C; Exon 24 splice site G→C C1477R; Part of the transcript deleted TD2 Ͻ0.1 Exon 13 A1730G Q597R TD3 Ͻ0.1 Exon 48 ⌬C6370; nd 2145X; nd FHD1-5 are heterozygous for the reported mutation; TD1,3 are compound heterozygous and TD2 is homozygous. Login to comment