ABCMdb

ABCA1 p.Arg130Lys

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Publications

PMID: 22959828 [PubMed] Fasano T et al: "Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency."

No. Sentence Comment

134 Mo-2 33y (M) TD 2.8 1.2 3.2 0.14 na b0.3 [c.1758_1759insG], p.R587Afs*43+[c.4799A>G], p.H1600R Mo-3 6y (F) TD 1.6 0.9 1.5 0.06 na nd [c.4465-34A>G,ins-33_-1]+[c.4465-34A>G,ins-33_-1], p.Q1488_1489insRPVCLVFM*9 Mo-4 32y (M) TD 1.3 na 2.1 0.03 0.4 b0.3 [c.4367delT]+[c.4367delT], p.M1456Sfs*45 Mo-5 6m (M) TD 2.5 0.57 1.5 0.13 na na [c.5449C>T]+[c.5449C>T], p.R1817* Mo-6 69y (F) FHD 3.7 2.7 1.5 0.3 0.97 0.4 [c.389G>A; c.5398A>C], p.R130K; p.N1800H+[wild type] Mo-7 37y (M) FHD 4.3 na 13.4 0.14 1.29 b0.3 [c.1195-27G>A,ins-25_-1], p.E398ins8V399Gfs*13+[wild type] Geߚ8 60y (F) FHD 5.6 3.6 3.5 0.72 1.16 1.0 [c.396_397insA], p.Q133Tfs*20+[wild type] Ge-9 54y (M) FHD 5.8 3.3 4.4 0.57 1.28 0.8 [c.3202C>T], p.R1068C+[wild type] Ge-10 52y (M) FHD 5.9 4.0 3.7 0.49 0.78 1.37 [c.5398A>C], p.N1800H+[wild type] TD = Tangier disease; FHD = familial HDL deficiency; y = years; m = months; M = males; F = females; na = not available, nd = not detectable. Login to comment
176 PolyPhen (PSIC score) SIFT (P score) p.R130K Possibly damaging (1.540) Predicted tolerated p.R1068C Probably damaging (3.143) Predicted not tolerated (0.00) p.D1099Y Probably damaging (3.047) Predicted not tolerated (0.00) p.H1600R Probably damaging (3.197) Predicted not tolerated (0.02) p.N1800H Possibly damaging (1.845) Predicted tolerated termination codon (p.R587Afs*43) and ii) a single nucleotide substitution (c.4799A>G) in exon 36, resulting in a novel missense mutation (p.H1600R) (Table 1). Login to comment
193 3.6. Patient # Mo-6 3.6.1. Analysis of ABCA1 gene This patient was a carrier of two single nucleotide substitutions: i) c.389G>A resulting in the conversion of arginine to lysine (p.R130K) predicted in silico to be benign and ii) c.5398A>C resulting in a previously reported missense mutation (p.N1800H) [8], predicted in silico to be possibly damaging (Table 2). Login to comment