title: Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene.
abstract: N-acetyltransferase (NAT2) is an enzyme involved in detoxification of various carcinogens. The gene is highly polymorphic with a number of alleles, and is also known as acetylator phenotypes: the fast, intermediate and slow acetylators. In this report, we describe a novel NAT2 allele, which was found in the allele typing with 109 Japanese individuals using conventional restriction fragment length polymorphism (RFLP) method. The sequence analyses of the entire amino acid coding region of the novel allele showed that it possessed a 190C>T variation leading to an amino acid substitution from arginine to tryptophan at position 64 (R64W). Consequently, the novel allele we found has been given the name of NAT2*19 by the arylamine N-acetyltransferase nomenclature committee.
authors.affiliation: Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shishikura
authors.forename: H
authors.initials: H
authors.lastname: Hohjoh
authors.forename: K
authors.initials: K
authors.lastname: Tokunaga
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D001191:Arylamine N-Acetyltransferase / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D013912:Threonine / Q000235:genetics*
chemical_list: D013912:Threonine; D001191:Arylamine N-Acetyltransferase; C478900:NAT2 protein, human; D003545:Cysteine