From: Germline Missense Changes in the APC Gene and Their Relationship to Disease
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 |