ABCA1 p.Arg557*
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PMID: 15019541
[PubMed]
Pisciotta L et al: "Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders."
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2
Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1.
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ABCA1 p.Arg557* 15019541:2:15
status: NEW70 The proband of Family 5 was a carrier of an ABCA1 mutation (R557X) and an Apo B mutation (R3500Q).
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ABCA1 p.Arg557* 15019541:70:60
status: NEW123 Transition c.1669 C > T in exon 13 (R557X) As this mutation introduces a Bgl II restriction site, a 333 bp PCR fragment encompassing exon 13 was digested with Bgl II (Amersham Pharmacia Biotech, Cologno Monzese, Italy).
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ABCA1 p.Arg557* 15019541:123:36
status: NEW164 II.2 W/W 43 M 28.0 5.10 3.70 0.96 0.80 104 98 ε3ε4 III.3 M2/W 9 M - 3.00 1.94 0.75 0.70 92 52 ε3ε4 Family 4 II.1 M4/W 62 M 23.3 4.45 2.71 0.72 2.21 102 92 ε3ε3 +++ Family 5 II.1a M5/W 59 M 36.7 7.16 6.02 0.52 1.71 81 133 ε3ε4 +++ III.1a W/W 33 F 21.8 7.52 5.02 1.99 1.13 162 112 ε4ε4 III.2 M5/W 31 F 22.8 4.68 3.28 0.85 1.18 92 82 ε3ε4 III.3 M5/W 31 F 24.4 4.00 2.74 0.90 0.78 97 72 ε3ε4 Family 6 I.2 M6/W 53 F 40.2 4.76 3.00 1.16 1.31 104 81 ε3ε3 II.1 W/W 41 M 27.5 6.54 4.35 1.19 2.20 141 148 ε3ε4 II.2 M6/W 39 M 26.2 3.57 2.44 0.77 0.77 93 71 ε3ε4 II.3 M6/W 37 F 21.3 4.44 2.63 0.76 2.30 85 89 ε3ε4 II.4 M7/W 37 M 18.8 3.67 2.43 1.00 0.50 89 57 ε3ε3 III.1 M6/M7 16 F 25.4 3.33 2.45 0.18 1.55 12 102 ε3ε3 III.2 M7/W 10 F 14.2 2.66 1.34 0.98 0.76 103 38 ε3ε3 W, ABCA1 wild-type allele; M, ABCA1 mutant allele: M1 (E284K); M2 (N1800H); M3 (Y482C); M4 (Q2196H); M5 (R557X); M6 (H160FsX173); M7 (R1901S); ND: not determined.
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ABCA1 p.Arg557* 15019541:164:1005
status: NEWX
ABCA1 p.Arg557* 15019541:164:1033
status: NEW172 The sequence of ABCA1 gene revealed that the proband was heterozygous for a transition c.1669 C > T (R557X) in exon 13 (Fig. 4); this mutation was also present in proband`s twin daughters.
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ABCA1 p.Arg557* 15019541:172:101
status: NEW200 of our series (Families 2 and 3), we are tempted to suggest that N1800H might be a recurrent mutation.
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ABCA1 p.Arg557* 15019541:200:63
status: NEW201 The novel mutations we identified included: (a) one non-sense (R557X) and one frameshift (H160FsX173) mutation, both predicted to encode short peptides presumably devoid of any function; (b) four missense mutations (E284K, Y482C, R1901S and Q2196H) resulting in non-homologous amino acid substitutions.
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ABCA1 p.Arg557* 15019541:201:63
status: NEW