TABLE 1.
DPYD variants identified in 3,554 Japanese subjects and three risk variants.
| db SNP rsID | Location | Nucleotide change | Amino acid substitution | Frequency (%) | References |
|---|---|---|---|---|---|
| — | Exon 2 | 74A > G | H25R | 0.01 | Hishinuma et al. (2018) |
| rs1801265 | Exon 2 | 85T > C (*9A, *9B) | C29R | 3.05 | Offer et al. (2013) |
| rs527580106 | Exon 3 | 229A > G | M77V | 0.01 | Novel |
| rs1212037891 | Exon 5 | 325T > A | Y109N | 0.23 | Hishinuma et al. (2018) |
| rs200562975 | Exon 5 | 451A > G | N151D | 0.23 | Hishinuma et al. (2018) |
| rs2297595 | Exon 6 | 496A > G | M166V | 2.18 | Hishinuma et al. (2018) |
| rs371792178 | Exon 6 | 524C > T | S175L | 0.03 | Hishinuma et al. (2018) |
| — | Exon 6 | 572C > T | A191V | 0.01 | Novel |
| rs767836989 | Exon 7 | 733A > T | I245F | 0.04 | Novel |
| — | Exon 9 | 871G > A | D291N | 0.01 | Novel |
| rs143879757 | Exon 9 | 893C > T | T298M | 0.01 | Hishinuma et al. (2018) |
| rs183105782 | Exon 9 | 910T > C | Y304H | 0.03 | Offer et al. (2014) |
| — | Exon 9 | 937G > T | V313L | 0.03 | Hishinuma et al. (2018) |
| rs1400122790 | Exon 10 | 963G > A | M321I | 0.01 | Novel |
| rs72549306 | Exon 10 | 1003G > A | V335M | 0.13 | Hishinuma et al. (2018) |
| rs143154602 | Exon 10 | 1057C > T | R353C | 0.01 | Offer et al. (2014) |
| rs1285381791 | Exon 10 | 1061G > A | C354Y | 0.03 | Novel |
| — | Exon 10 | 1097G > C | G366A | 0.03 | Hishinuma et al. (2018) |
| — | Exon 11 | 1139C > T | A380V | 0.01 | Hishinuma et al. (2018) |
| — | Exon 11 | 1150A > G | K384E | 0.01 | Hishinuma et al. (2018) |
| rs748620513 | Exon 11 | 1300G > C | V434L | 0.03 | Hishinuma et al. (2018) |
| — | Exon 11 | 1312T > G | F438V | 0.01 | Novel |
| rs148994843 | Exon 13 | 1543G > A | V515I | 0.03 | Hishinuma et al. (2018) |
| rs777368221 | Exon 13 | 1572T > G | F524L | 0.06 | Novel |
| rs1180771326 | Exon 13 | 1582A > G | I528V | 0.01 | Elraiyah et al. (2017) |
| rs1801159 | Exon 13 | 1627A > G (*5) | I543V | 26.94 | Hishinuma et al. (2018) |
| rs1314015254 | Exon 13 | 1678A > G | I560V | 0.03 | Novel |
| rs55886062 | Exon 13 | 1679T > G (*13) | I560S | — | Offer et al. (2013) |
| rs59086055 | Exon 14 | 1774C > T | R592W | 0.01 | Hishinuma et al. (2018) |
| — | Exon 14 | 1811A > T | Q604L | 0.01 | Novel |
| rs3918290 | — | 1905 + 1 G > A (*2A) | Exon 14 skipping | — | Offer et al. (2013) |
| rs1801160 | Exon 18 | 2194G > A (*6) | V732I | 1.91 | Hishinuma et al. (2018) |
| rs368327291 | Exon 18 | 2212G > C | V738L | 0.01 | Novel |
| — | Exon 18 | 2243G > A | G748D | 0.03 | Novel variant |
| rs56005131 | Exon 19 | 2303C > A | T768K | 2.42 | Hishinuma et al. (2018) |
| rs1335150891 | Exon 19 | 2420A > G | H807R | 0.03 | Hishinuma et al. (2018) |
| — | Exon 20 | 2476G > A | V826M | 0.1 | Hishinuma et al. (2018) |
| rs571114616 | Exon 20 | 2528T > C | I843T | 0.01 | Novel |
| rs1801267 | Exon 21 | 2657G > A (*9B) | R886H | 0.01 | Offer et al. (2014) |
| rs188052243 | Exon 21 | 2678A > G | N893S | 0.23 | Hishinuma et al. (2018) |
| — | Exon 22 | 2777G > T | G926V | 0.01 | Hishinuma et al. (2018) |
| — | Exon 22 | 2816G > A | S939N | 0.01 | Novel |
| rs67376798 | Exon 22 | 2846A > T | D949V | — | Offer et al. (2014) |
| — | Exon 23 | 2969C > T | T990I | 0.01 | Novel |