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Table 9 Effect of missense mutations on ESE binding motifs

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
  1. Add = adds a new ESE motif; Loss = removes an ESE motif
  2. #This change results in the removal of 5 ESE motifs and the creation
  3. of an additional ESE motif
  4. *This change combines one independent ESE motif with an adjacent one
  5. +These polymorphisms were not identified in the current study