ABCA1 p.Arg2004Lys
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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.Arg2004Lys 18199144:7:95
status: NEW56 Three were novel mutations (I659V, R2004K and A2028V) only detected in single low-HDL individuals.
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ABCA1 p.Arg2004Lys 18199144:56:35
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.Arg2004Lys 18199144:59:70
status: NEW91 Three novel ABCA1 mutations were found in low-HDL individuals I659V, R2004K, and A2028V.
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ABCA1 p.Arg2004Lys 18199144:91:69
status: NEW
PMID: 23087442
[PubMed]
Sorrenson B et al: "Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate."
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Sentence
Comment
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.Arg2004Lys 23087442:16:90
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.Arg2004Lys 23087442:53:201
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.Arg2004Lys 23087442:76:125
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.Arg2004Lys 23087442:77:120
status: NEW79 Areas of mislocalized ABCA1-GFP are indicated by arrows in Fig. 2A with the p.Y1767D and R2004K mutants being the most affected.
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ABCA1 p.Arg2004Lys 23087442:79:89
status: NEW109 Upon 4-PBA treatment, efflux function was significantly increased relative to the untreated level for the p.R1068H, p.T1512M, p.Y1767D, p.N1800H, p.R2004K, and p.A2028V mutants (Fig. 3B).
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ABCA1 p.Arg2004Lys 23087442:109:148
status: NEW112 Treatment with 4-PBA induced a significant increase in colocalization for the p.A594T, p.R1068H, p.T1512M, p.Y1767D, p.N1800H, and p.R2004K mutants. Treatment with 4-PBA did not affect the colocalization of the wild-type ABCA1-GFP protein (supplementary Fig. II).
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ABCA1 p.Arg2004Lys 23087442:112:133
status: NEW