Table 2. Allele frequencies of human NAPRT1 genetic variants. Five intronic, five silent and two missense variants were found in normal (n = 149) and tumor (n = 80) samples, including two novel polymorphic sites. Five additional intronic variants were found in the complete sequence of five samples (n.d., frequencies not determined), plus a previously undescribed deletion. The frequencies from 1000 Genomes were retrieved from the Ensembl Genome Browser.
| Ref ID | Variant type | Exon or intron | Nucleotide change | Amino acid change | Normal n = 149 | Tumor n = 80 | 1000 Genomes |
|---|---|---|---|---|---|---|---|
| rs2015562 | Non-coding | intron 1 | g.257C>A | - | 0.872/0.128 | 0.631/0.369 | 0.761/0.239 |
| rs896953 | Non-coding | intron 1 | g.325T>C | - | 0.316/0.684 | 0.300/0.700 | 0.299/0.701 |
| rs896954 | Silent | exon 2 | g.468C>T | Ala98Ala | 0.851/0.149 | 0.881/0.119 | 0.846/0.154 |
| rs200364051 | Missense | exon 2 | g.490G>A | Val106Met | 0.995/0.005 | - | n.a. |
| rs145565666 | Silent | exon 2 | g.516C>A | Leu114Leu | 0.997/0.003 | - | 0.998/0.002 |
| rs2305496 | Non-coding | intron 2 | g.565G>T | - | 0.875/0.125 | 0.675/0.325 | 0.779/0.221 |
| - | Silent | exon 3 | g.676C>G | Val142Val | 0.915/0.085 | - | - |
| rs12678314 | Non-coding | intron 3 | g.906T>C | - | n.d. | n.d. | 0.272/0.728 |
| rs744650 | Silent | exon 7 | g.1784C>T | Pro298Pro | 0.990/0.010 | - | 0.982/0.018 |
| rs872935 | Silent | exon 7 | g.1803C>T | Leu305Leu | 0.375/0.625 | 0.738/0.263 | 0.551/0.449 |
| rs35975875 | Missense | exon 7 | g.1884C>T | Arg332Cys | 0.997/0.003 | - | 0.997/0.003 |
| rs114291348 | Non-coding | intron 7 | g.2009G>A | - | 0.969/0.031 | 0.987/0.013 | 0.972/0.028 |
| - | Non-coding | intron 7 | g.2013A>G | - | - | 0.994/0.006 | - |
| rs896955 | Non-coding | intron 7 | g.2144G>A | - | n.d. | n.d. | 0.763/0.237 |
| - | Non-coding | intron 8 | g.2542_2544 delCCC | - | n.d. | n.d. | - |
| rs2290417 | Non-coding | intron 11 | g.3245C>G | - | n.d. | n.d. | 0.315/0.685 |
| rs77951814 | Non-coding | intron 12 | g.3362G>C | - | n.d. | n.d. | 0.913/0.087 |