Mutation type | FAP | Non-FAP | ||
---|---|---|---|---|
Base substitutions | Chain terminating mutations | 35 | ||
Amino acid changes | 3 | 3 | ||
Splice defects | 2 | |||
Frameshifts | Insertions | 1 bp | 7 | |
2 bp | 1 | |||
Deletions | 1 bp | 9 | ||
2 bp | 2 | |||
4 bp | 5 | |||
5 bp | 22 | |||
10 bp | 1 | |||
PTT truncated proteins | 23 | |||
Unknown | 13 | |||
Total | 123 | 3 |
Table summarises chain terminating mutations and amino acid changes identified in FAP and non-FAP patients; 13 patients with an unknown status are yet to be sequenced.