ABCMdb

PMID: 12407001

Hong SH, Riley W, Rhyne J, Friel G, Miller M
Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.
Clin Chem. 2002 Nov;48(11):2066-70., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCA1 p.Trp590Leu The affected individuals in the kindred were heterozygous for a G2265T substitution (Fig. 2, arrow) with predicted conversion of Trp to Leu (W590L). Login to comment 52 ABCA1 p.Trp590Leu The affected individuals in the kindred were heterozygous for a G2265T substitution (Fig. 2, arrow) with predicted conversion of Trp to Leu (W590L). Login to comment 55 ABCA1 p.Trp590Leu Pedigree of a kindred showing HDL-C segregation of W590L mutation. Login to comment 56 ABCA1 p.Trp590Leu Pedigree of a kindred showing HDL-C segregation of W590L mutation. Login to comment 62 ABCA1 p.Trp590Leu Significant differences between (ϩ) and (-) individuals for the W590L mutation were noted for HDL-C (P ϭ 0.009) and apoA-I (P ϭ 0.036). Login to comment 63 ABCA1 p.Trp590Leu Significant differences between (af9;) and (afa;) individuals for the W590L mutation were noted for HDL-C (P afd; 0.009) and apoA-I (P afd; 0.036). Login to comment 75 ABCA1 p.Trp590Leu Individuala Sex Age, years TC,b mmol/L TG, mmol/L HDL-C, mmol/L LDL-C, mmol/L apoA-I, g/L apoB, g/L I-2 (-) F 88 5.43 3.28 1.40 3.39 1.67 1.10 I-3 (؉) M 81 4.63 2.20 1.06 3.13 1.21 0.95 II-1 (-) M 48 4.88 4.34 1.14 2.87 1.32 1.00 II-2 (-) F 47 5.53 3.54 1.65 3.18 2.00 1.11 II-3 (؉) M 52 3.10 2.97 0.34 2.17 0.49 0.93 II-4 (-) F 54 3.95 1.63 1.65 1.96 1.54 0.60 II-5 (؉) M 57 5.19 2.38 1.14 3.59 1.39 1.18 II-6 (-) F 54 3.67 1.24 1.14 2.17 1.18 0.64 II-7 (-) M 54 7.13 4.91 1.94 4.21 2.05 1.26 II-8 (؉) F 40 3.80 2.45 0.88 2.43 1.06 0.86 III-1 (-) F 19 4.16 2.48 0.96 2.71 1.01 0.79 III-2 (-) M 27 3.10 2.43 1.27 1.34 1.51 0.54 III-3 (؉) M 31 3.70 2.74 0.54 2.61 0.85 0.98 III-4 (؉) F 28 3.80 2.35 1.03 2.30 1.29 0.80 III-5 (-) F 33 3.98 1.52 1.40 2.27 1.34 0.68 III-6 (-) F 19 3.95 2.74 0.96 2.45 1.10 0.75 III-7 (-) F 27 5.37 2.07 1.96 2.89 1.90 0.93 III-8 (-) M 10 3.64 2.25 1.01 2.20 1.15 0.77 III-9 (-) M 13 3.70 1.60 1.24 2.14 1.24 0.68 III-10 (-) F 17 3.23 3.75 0.88 1.60 1.09 0.62 Mean Ϯ SD (ϩ), n ϭ 6 41.60 Ϯ 12.70 4.04 Ϯ 0.75 2.52 Ϯ 0.29 0.83 Ϯ 0.32c 2.71 Ϯ 0.55 1.016 Ϯ 0.361d 0.950 Ϯ 0.146 (-), n ϭ 14 36.40 Ϯ 21.90 4.41 Ϯ 1.12 2.70 Ϯ 1.12 1.33 Ϯ 0.36c 2.53 Ϯ 0.75 1.435 Ϯ 0.351d 0.819 Ϯ 0.223 a (ϩ) and (-) indicate individuals with and without the ABCA1 W590L mutation, respectively. Login to comment 76 ABCA1 p.Trp590Leu Individuala Sex Age, years TC,b mmol/L TG, mmol/L HDL-C, mmol/L LDL-C, mmol/L apoA-I, g/L apoB, g/L I-2 (afa;) F 88 5.43 3.28 1.40 3.39 1.67 1.10 I-3 (d19;) M 81 4.63 2.20 1.06 3.13 1.21 0.95 II-1 (afa;) M 48 4.88 4.34 1.14 2.87 1.32 1.00 II-2 (afa;) F 47 5.53 3.54 1.65 3.18 2.00 1.11 II-3 (d19;) M 52 3.10 2.97 0.34 2.17 0.49 0.93 II-4 (afa;) F 54 3.95 1.63 1.65 1.96 1.54 0.60 II-5 (d19;) M 57 5.19 2.38 1.14 3.59 1.39 1.18 II-6 (afa;) F 54 3.67 1.24 1.14 2.17 1.18 0.64 II-7 (afa;) M 54 7.13 4.91 1.94 4.21 2.05 1.26 II-8 (d19;) F 40 3.80 2.45 0.88 2.43 1.06 0.86 III-1 (afa;) F 19 4.16 2.48 0.96 2.71 1.01 0.79 III-2 (afa;) M 27 3.10 2.43 1.27 1.34 1.51 0.54 III-3 (d19;) M 31 3.70 2.74 0.54 2.61 0.85 0.98 III-4 (d19;) F 28 3.80 2.35 1.03 2.30 1.29 0.80 III-5 (afa;) F 33 3.98 1.52 1.40 2.27 1.34 0.68 III-6 (afa;) F 19 3.95 2.74 0.96 2.45 1.10 0.75 III-7 (afa;) F 27 5.37 2.07 1.96 2.89 1.90 0.93 III-8 (afa;) M 10 3.64 2.25 1.01 2.20 1.15 0.77 III-9 (afa;) M 13 3.70 1.60 1.24 2.14 1.24 0.68 III-10 (afa;) F 17 3.23 3.75 0.88 1.60 1.09 0.62 Mean afe; SD (af9;), n afd; 6 41.60 afe; 12.70 4.04 afe; 0.75 2.52 afe; 0.29 0.83 afe; 0.32c 2.71 afe; 0.55 1.016 afe; 0.361d 0.950 afe; 0.146 (afa;), n afd; 14 36.40 afe; 21.90 4.41 afe; 1.12 2.70 afe; 1.12 1.33 afe; 0.36c 2.53 afe; 0.75 1.435 afe; 0.351d 0.819 afe; 0.223 a (af9;) and (afa;) indicate individuals with and without the ABCA1 W590L mutation, respectively. Login to comment 87 ABCA1 p.Trp590Leu The W590L mutation site in ABCA1 resides in a highly conserved hydrophobic region within the extracellular segment of the NH2 terminus (24, 25) and is identical to amino acid 605 of ABCR. Login to comment 89 ABCA1 p.Trp590Ser Other mutations in ABCA1 associated with TD and in close proximity to W590S have been identified in amino acids 587 and 597 (3, 27). Login to comment 90 ABCA1 p.Trp590Ser Finally, Bodzioch et al. (4) reported a mutation in an individual with TD at the same nucleotide (2265) that led to a predicted conversion of Trp to Ser (W590S). Login to comment