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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