Fig. 2: Schematic diagram of duoxa gene and mutation within the gene.

A Position of SNPs in the gene. Box and line represent exon and intron, respectively. Arrow on exon 3 indicates SNPs observed in TP phenotype. B–D SNPs and allelic patterns obtained by direct sequencing. Two SNPs are shown in the red boxes, distributed over two codons. One SNP (T or A), the 3´ end of Val, does not change the amino acid. G or T SNP, the 5´ end of Gly, changes the amino acid Gly to Arg. Electropherogram showing heterogeneous alleles is in C.