Table 2. Coding missense changes found in the APC, CTNNB1, and AXIN1 genes in patients with multiple adenomatous polyps and controls.
Gene | Exon | GenBank accession no. | Nucleotide position | Codon | Allele 1 | Allele 2 | Mutation | No. of patients | No. of controls | Reference |
---|---|---|---|---|---|---|---|---|---|---|
APC | 15 | NM42_000038 | 3949 | 1317 | GAA | CAA | E1317Q | 3 | 6/480 | 3, 4 |
CTNNB1 | 6 | NM42_001904 | 1074 | 287 | AAC | AGC | N287S | 1 | 3/483 | 21* |
AXIN1 | 2 | AF009674 | 899 | 312 | CCC | ACC | P312T | 1 | 0/481 | This work |
AXIN1 | 4 | AF009674 | 1158 | 398 | CGT | CAT | R398H | 1 | 0/481 | This work |
AXIN1 | 5 | AF009674 | 1186 | 445 | CTG | ATG | L445M | 1 | 0/483 | 19* |
AXIN1 | 6 | AF009674 | 1600 | 545 | GAC | GAG | D545E | 2 | 6/469 | 36 |
AXIN1 | 7 | AF009674 | 2063 | 700 | GGC | AGC | G700S | 6 | 19/480 | 38 |
AXIN1 | 10 | AF009674 | 2637 | 891 | CGA | CAA | R891Q | 7 | 14/478 | 36 |
The number of patients tested in each case was 124, whereas the number of controls with definitive results varied from 469 to 483 as indicated. Allele 1 is the common allele, and Allele 2 is the variant. The altered nucleotide giving rise to the variant allele is underlined.
Reference refers to report of somatic, not germ-line, change.