Table 3. Non-synonymous SNPs not found in dbSNP identified in 260 individuals.
| Position (hg18) | NT substitution | AA substitution | Source | Song et al.? |
|---|---|---|---|---|
| 229 896 375 | C/T | A83V | 47 | Yes |
| 229 896 606 | G/T | W160L | 47 | No |
| 229 896 987 | C/T | P287L | 47 | No |
| 229 897 063 | T/G | C312W | 47 | No |
| 229 969 594 | T/C | I452F | 47 | No |
| 230 969 594 | A/T | E751Q | 29 | Yes |
Abbreviation: AA, amino acid; dbSNP, single-nucleotide polymorphism database; NT, nucleotide. Two have been found in a previous study and four are novel.