title: A novel single nucleotide polymorphism (SNP) of the CYP2C19 gene in a Japanese subject with lowered capacity of mephobarbital 4'-hydroxylation.
abstract: 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. 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 heme-binding 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.
authors.affiliation: Laboratory of Pharmacology and Toxicology, Graduate School of Pharmaceutical Sciences, Chiba University, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Morita
authors.forename: Kaoru
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Atsuko
authors.initials: A
authors.lastname: Wanibuchi
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kimura
authors.forename: Shin
authors.initials: S
authors.lastname: Irie
authors.forename: Takashi
authors.initials: T
authors.lastname: Ishizaki
authors.forename: Kan
authors.initials: K
authors.lastname: Chiba
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D001189:Aryl Hydrocarbon Hydroxylases / Q000172:deficiency* / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D065731:Cytochrome P-450 CYP2C19; D004789:Enzyme Activation / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D006900:Hydroxylation; D008297:Male; D008618:Mephobarbital / Q000378:metabolism*; D006899:Mixed Function Oxygenases / Q000172:deficiency* / Q000235:genetics*; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D008618:Mephobarbital; D001120:Arginine; D006899:Mixed Function Oxygenases; D001189:Aryl Hydrocarbon Hydroxylases; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19; D003545:Cysteine