ABCA1 p.Arg1817*
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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.
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ABCA1 p.Arg1817* 22959828:134:358
status: NEW191 3.5. Patient # Mo-5 3.5.1. Analysis of ABCA1 gene The patient was found to be homozygous for a single nucleotide substitution (c.5449C>T), causing the formation of a premature termination codon (p.R1817*) (Table 1).
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ABCA1 p.Arg1817* 22959828:191:197
status: NEW