ABCG5 p.Asp450His
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PMID: 19667188
[PubMed]
Kenny EE et al: "Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae."
No.
Sentence
Comment
9
Resequencing of ABCG5 in these carriers found a D450H missense mutation along the associated haplotype. These findings exemplify the power of haplotype analysis for mapping mutations in isolated populations and specifically for dissecting effects of multiple variants of the same locus.
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ABCG5 p.Asp450His 19667188:9:48
status: NEW42 Sequencing of the ABCG5/ABCG8 genes in carriers of the 526-kb haplotype revealed an ABCG5 D450H missense mutation, a plausible putative causal variant in this haplotype. These findings exemplify the power of haplotype analysis in resolving the effect of multiple variants of the same locus.
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ABCG5 p.Asp450His 19667188:42:90
status: NEW108 As shown in Fig. S3, this effort revealed an ABCG5 exon 10 missense mutation resulting in a coding change from negatively charged aspartic acid to positively charged histidine at residue 450 (D450H).
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ABCG5 p.Asp450His 19667188:108:192
status: NEW
PMID: 21862702
[PubMed]
Calandra S et al: "Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk."
No.
Sentence
Comment
178
Amazingly, nearly 2% of Kosrae (i.e., three large extended families and one apparently unrelated individual) carry a single missense mutation (D450H) (89), affecting the ABCG5 putative transmembrane domain.
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ABCG5 p.Asp450His 21862702:178:143
status: NEW180 ABCG8 haploinsufficiency and ABCG5 missense mutation increase net sterol absorption in a Micronesian population Noncarriers ABCG8 p.Q24HfsX8 Carriers ABCG5 p.D450H Carriers P (ANOVA) Frequency (%) - 11.1 1.8 Campesterol:cholesterol (~sterol absorption) 1.33 ± 0.52 2.00 ± 0.87 2.78 ± 1.01 <0.0001 a Lathosterol:cholesterol (~cholesterol synthesis) 1.52 ± 0.67 1.33 ± 0.55 0.84 ± 0.38 <0.0001 a Total cholesterol (mg/dl) 165.48 ± 34.35 170.20 ± 34.48 167.55 ± 34.92 0.022b Data (e.g., plasma campesterol:cholesterol ratio) are from up to 2,819 individuals (83, 89).
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ABCG5 p.Asp450His 21862702:180:158
status: NEW