Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations.

Summary: Eleven novel single nucleotide polymorphisms ( SNPs) were found in the NR1I2 (PXR/SXR) gene from 205 Japanese subjects. The detected SNPswere as follows: 1) SNP, MPJ6_1I2001; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-TTTCTACCTCTA C/T TATTGAAAGGGC-3′ 2) SNP, MPJ6_1I2004; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-AGGCCCAAATGT G/A AGTGATGCATAG-3′ 3) SNP, MPJ6_1I2007; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-TGCCAGGCCTGC C/T GCCTGCGCAAGT-3′ 4) SNP, MPJ6_1I2008; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-GAGTGAGCAGTG G/C GCGCGCGGGCGG-3′ 5) SNP, MPJ6_1I2010; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-CAGAGGAGCAGC G/A GATGATGATCAG-3′ 6) SNP, MPJ6_1I2011; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-CTGGAAGTGGCC A/G GGAGGTTCAAAG-3′ 7) SNP, MPJ6_1I2013; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-TCTTCCTCTCGC C/T CCCAACTTCTGG-3′ 8) SNP, MPJ6_1I2017; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-ATTGAATGCAAT C/T GGCCCCAGCCTG-3′ 9) SNP, MPJ6_1I2018; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-GGTGAGCACAGC A/G GGGGGTGAGGAC-3′ 10) SNP, MPJ6_H2019; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-GAGCTCCGCAGC A/G TCAATGCTCAGC-3′ 11) SNP, MPJ6_1I2021; GENE NAME, NR1I2 ; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5′-GGTGACACCTCC G/A AGAGGCAGCCAG-3′. The frequencies were 0.0293 for MPJ6_1I2021, 0.0073 for MPJ6_1I2011, and 0.0024 for the other 9 SNPs. All SNPswere found as heterozygous. Among these SNPs, MPJ6_1I2007, MPJ6_1I2010, MPJ6_1I2017 and MPJ6_1I2019 induce non-synonymous amino acid alterations (R98C, R148Q, R381W and I403V, respectively, in PAR1).