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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Amino Acid Sequence
-
Amino Acid Substitution / genetics
-
Arginine / genetics
-
Aryl Hydrocarbon Hydroxylases / deficiency*
-
Aryl Hydrocarbon Hydroxylases / genetics*
-
Asian People / genetics*
-
Cysteine / genetics
-
Cytochrome P-450 CYP2C19
-
Enzyme Activation / genetics
-
Genetic Carrier Screening
-
Humans
-
Hydroxylation
-
Male
-
Mephobarbital / metabolism*
-
Mixed Function Oxygenases / deficiency*
-
Mixed Function Oxygenases / genetics*
-
Molecular Sequence Data
-
Polymorphism, Single Nucleotide / genetics*
Substances
-
Mephobarbital
-
Arginine
-
Mixed Function Oxygenases
-
Aryl Hydrocarbon Hydroxylases
-
CYP2C19 protein, human
-
Cytochrome P-450 CYP2C19
-
Cysteine