Table 2.
WRN exonuclease region SNPs.
| Mutation | Location | Nucleotide Position | Amino Acid Substitution | Frequency | Reported Frequency |
|---|---|---|---|---|---|
| G to A | Exon 4 | 340 | V114I | 0.06 | 0.02–0.17 |
| G to C | Intron 4/5 | +4/−477 | - | 0.03 | - |
| A to T | Intron 4/5 | +20/−461 | - | 0.06 | 0.02–0.06 |
| A to G | Intron 4/5 | +176/−305 | - | 0.06 | 0.05–0.06 |
| T to C | Exon 6 | 503 | - | 0.54 | 0.13–0.46 |
| C to T | Exon 6 | 611 | P204L | 0.01 | - |
| C to A | Intron 6/7 | +135/−941 | - | 0.03 | 0.01 |
| T to A | Intron 6/7 | +1053/−23 | - | 0.06 | 0.04–0.05 |
| Insert T* | Exon 8 | 809 | - | 0.01 | - |
| G to A* | Exon 9 | 1155 | - | 0.01 | 0.02–0.09 |
| G to A* | Exon 9 | 1162 | M387I | 0.03 | 0.02–0.07 |
*
Indicate mutations that occur just outside the WRN exonuclease domain.
Reported frequencies were obtained from the GeneSNPs SNP database (http://www.genome.utah.edu/genesnps/).