ABCA1 p.Ile659Val
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PMID: 18199144
[PubMed]
Slatter TL et al: "Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels."
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Sentence
Comment
7
Mutations were identified in five of the low-HDL subjects, three having novel variants (I659V, R2004K, and A2028V) and two with a previously identified variant (R1068H).
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ABCA1 p.Ile659Val 18199144:7:88
status: NEW56 Three were novel mutations (I659V, R2004K and A2028V) only detected in single low-HDL individuals.
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ABCA1 p.Ile659Val 18199144:56:28
status: NEW59 The R1068H mutation was predicted to be Ôprobably damaging`, the R2004K mutation Ôpossibly damaging` and the I659V and A2028V mutations Ôbenign`.
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ABCA1 p.Ile659Val 18199144:59:119
status: NEW91 Three novel ABCA1 mutations were found in low-HDL individuals I659V, R2004K, and A2028V.
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ABCA1 p.Ile659Val 18199144:91:62
status: NEW
PMID: 23087442
[PubMed]
Sorrenson B et al: "Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate."
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Sentence
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16
Nine different ABCA1 mutants (p.A594T, p.I659V, p.R1068H, p.T1512M, p.Y1767D, p.N1800H, p.R2004K, p.A2028V, p.Q2239N) expressed in HEK293 cells, displaying different degrees of mislocalization to the plasma membrane and discrete impacts on cholesterol efflux, were subject to treatment with 4-PBA.
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ABCA1 p.Ile659Val 23087442:16:41
status: NEW53 The Pearson`s correlation coefficient between the GFP and AlexaFluor594 of the ABCA1 mutations were previously identified in low HDL-C subjects and included three uncharacterized mutations, p.I659V, p.R2004K, and p.A2028V (18) and three variants, p.R1068H, p.T1512M, and p.N1800H, known to have reduced localization and cholesterol efflux (19, 20).
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ABCA1 p.Ile659Val 23087442:53:192
status: NEW76 We first characterized the three novel ABCA1 mutants and three previously identified but uncharacterized mutants (p.I659V, p.R2004K, and p.A2028V) in HEK293 cells, which lack the endogenous ABCA1 protein (see supplementary Fig. I).
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ABCA1 p.Ile659Val 23087442:76:116
status: NEW77 Investigation of the six uncharacterized mutations in transfected HEK293 cells showed the p.A594T, p.I659V, p.Y1767D, p.R2004K, and p.A2028V mutants to have various degrees of mislocalization (Fig. 2A).
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ABCA1 p.Ile659Val 23087442:77:101
status: NEW