Tissue type | Exon/nt (bp) | Position (aa) | Domain affected | Ref |
---|---|---|---|---|
Approximately 20% of mismatch repair deficient colorectal cancers harbour mutations in axin2. Most mutations are located around a G7 repeat in exon 7 (nt 637–714), which results in premature protein truncation. | ||||
aa, amino acids; APC, adenomatous polyposis coli; bp, base pair; CRC, colorectal cancer; del, deletion; EM, endometrial cancer; GSK3, glycogen synthase kinase 3; HB, hepatoblastoma; HCC, hepatocellular cancer; ins, insertion; nt, nucleotide; OEA, ovarian endometrioid adenocarcinoma. | ||||
CRC | 7 | L688X | ? | 53 |
CRC | 7 | E706X | ? | 53 |
OEA | 7 | G665X | ? | 101 |
CRC | 7 | E706Ter | ? | 103 |
EM | 7 | S658C | ? | 99 |
CRC/Oligodentia | 7 | R656X | ? | 104 |
CRC/Oligodentia | 7 (1995 ins G) | ?706X | ? | 104 |
HCC | 7 | R659W | ? | 97 |
HCC | 7 (2102; >del 12 bp) | del TTPR | ? | 97 |