Table 1 Sequences of the APC coding regions
From: The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells
Exon location | Position (a.a) | Nuc. change | Coverage | Amino acid change | Nuc. name | Mutation |
|---|---|---|---|---|---|---|
E11 | 332 | C > T (het) | 51 % | R- > (STOP) 332 | c.994C > T | Germline |
E13 | 486 | T- > C (het) | 50 % | Y- > Y (486) | c.1458 T > C rs2229992 | Polymorphism |
E15 | 545 | G- > A (het) | 52 % | A- > A (545) | c.1635 G > Ars351771 | Polymorphism |
E17 | 1317 | G- > C (het) | 50 % | E- > Q (1317) | c.3949G > A rs42427 | Polymorphism |
E17 | 1493 | G- > A (het) | 48 % | T- > T (1493) | c.4479G > A rs41115 | Polymorphism |
E17 | 1678 | G- > A (het) | 51 % | G- > G (1678) | c.5034G > A rs42427 | Polymorphism |
E17 | 1755 | GTCT- > ATCG (het) | 49 % | AS- > AS (1755..1756) | c.5265_5268delins | Polymorphism |
E17 | 1822 | T- > A (homo) | 100 % | V- > D (1822) | c.5465 T > A rs459552 | Polymorphism |
E17 | 1960 | G- > A (het) | 51 % | P- > P (1960) | c.5880G > A rs465899 | Polymorphism |
E17 | 2401 | C- > T (het) | 53 % | L- > L (2401) | c.7201C > T rs2229994 | Polymorphism |