SNP CommunicationA Novel Single Nucleotide Polymorphism (SNP) of the CYP2C19 Gene in a Japanese Subject with Lowered Capacity of MEPHOBARBITAL (cas 115-38-8) 4′-Hydroxylation
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Add time:08/24/2019 Source:sciencedirect.com
Summary:We sequenced all nine exons and exon-intron junctions of the cytochrome P450 2C19 (CYP2C19) gene from a Japanese subject with a lowered capacity of CYP2C19-mediated 4′-hydroxylation after an oral administration of MEPHOBARBITAL (cas 115-38-8). We found a novel single nucleotide polymorphism (SNP) of CYP2C19 gene as follows: SNP, 040110MoritaJ001; GENENAME: CYP2C19; ACCESSION NUMBER: NT−030059.8; LENGTH; 25 bases; 5′-GAGGGCCTGGCCC/TGCATGGAGCTGT-3′. The SNP (168946C>T) induced an amino acid alteration (Arg442Cys) located in exon 9 close to the hemebinding region of CYP2C19, which may result in the decrease in the catalytic properties of CYP2C19. A new allele having this SNP was designated as CYP2C19*16.
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