ABCG8 p.Gln24His
| Predicted by SNAP2: | A: N (61%), C: N (53%), D: N (66%), E: N (66%), F: D (53%), G: N (53%), H: N (72%), I: N (57%), K: N (72%), L: N (66%), M: N (57%), N: N (72%), P: N (53%), R: N (72%), S: N (66%), T: N (66%), V: N (66%), W: D (59%), Y: N (53%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, R: N, S: N, T: N, V: D, W: D, Y: N, |
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[hide] Phytosterolemia on the island of Kosrae: founder e... J Lipid Res. 2004 Sep;45(9):1608-13. Epub 2004 Jun 21. Sehayek E, Yu HJ, von Bergmann K, Lutjohann D, Stoffel M, Duncan EM, Garcia-Naveda L, Salit J, Blundell ML, Friedman JM, Breslow JL
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.
J Lipid Res. 2004 Sep;45(9):1608-13. Epub 2004 Jun 21., [PMID:15210841]
Abstract [show]
Screening of 932 adults on the Pacific island of Kosrae for plasma plant sterol levels disclosed three subjects, two of them asymptomatic, with phytosterolemia. Sequencing the ATP binding cassette subfamily G member 8 (ABCG8) gene revealed a novel exon 2 mutation that causes a change in codon 24 from glutamine to histidine and a frame shift followed by a premature stop codon, precluding the formation of a functional ABCG8 protein. Genotyping of 1,090 Kosraens revealed 150 as carriers, a 13.8% carrier rate. DNA sequencing of 67 carriers revealed the same mutation as in the probands. In carriers, plasma campesterol and sitosterol levels were 55% and 30% higher, respectively, than in noncarriers. Moreover, compared with noncarriers, carriers showed 21% lower plasma levels of lathosterol, a surrogate marker for cholesterol biosynthesis. There was no difference between the groups in plasma total cholesterol, triglycerides, apolipoprotein B, or apolipoprotein A-I levels. In summary, on the island of Kosrae, a strong founder effect of a mutant ABCG8 allele results in a large number of carriers with increased plasma plant sterol levels and decreased lathosterol levels. The latter finding suggests that heterozygosity for a mutated ABCG8 allele results in a modest increase in dietary cholesterol absorption and a decrease in cholesterol biosynthesis.
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No. Sentence Comment
1 Sequencing the ATP binding cassette subfamily G member 8 (ABCG8) gene revealed a novel exon 2 mutation that causes a change in codon 24 from glutamine to histidine and a frame shift followed by a premature stop codon, precluding the formation of a functional ABCG8 protein.
X
ABCG8 p.Gln24His 15210841:1:133
status: VERIFIED79 This mutation would result in a change in codon 24 from Gln to His and a frame shift followed by eight new codons and a premature stop codon, precluding the formation of a functional ABCG8 protein.
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ABCG8 p.Gln24His 15210841:79:48
status: VERIFIED