PMID: 15210841

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., [PubMed]
Sentences
No. Mutations Sentence Comment
1 ABCG8 p.Gln24His
X
ABCG8 p.Gln24His 15210841:1:133
status: VERIFIED
view ABCG8 p.Gln24His details
 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. Login to comment 79 ABCG8 p.Gln24His
X
ABCG8 p.Gln24His 15210841:79:48
status: VERIFIED
view ABCG8 p.Gln24His details
 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. Login to comment