Table 9.
Effect of missense mutations on ESE binding motifs
| Nucleotide position | Change in ESE motifs | Potential effect |
|---|---|---|
| Silent Polymorphisms | ||
| 1554G>A | No | None |
| 1635 A>G | No | None |
| 3471 G>A | Yes | Add |
| 3499 G>A | No | None |
| 3606 T>C | No | None |
| 4326 T>A | No | None |
| 4479 G>A | Yes | Add |
| 4497 G>A | Yes | Add |
| 5034 A>G | Yes | Add |
| 5268 G>T | No | None |
| 5880 A>G | No | None |
| 6948 A>G | Yes | Loss |
| 6921 G>A | Yes | Add |
| Missense Mutations | ||
| 3386 T>C | No | None |
| 3949 G>C | No | None |
| 4237 A>G | Yes | Loss |
| 4918 C>T | No | None |
| 5465 A>T | Yes | Add |
| 7406 C>T | No | None |
| 7504 G>A | No | None |
| 7862 C>G | No | None |
| 8068 G>A | Yes | Complex# |
| +3921T>A (I1307K) | Yes | Complex* |
| +3951C>G (E1317Q) | Yes | Add |
Add = adds a new ESE motif; Loss = removes an ESE motif
#This change results in the removal of 5 ESE motifs and the creation
of an additional ESE motif
*This change combines one independent ESE motif with an adjacent one
+These polymorphisms were not identified in the current study