Sequence variants of the Axin1 gene found in human cancer
| Tissue type | Exon/nt or aa | Position (aa) | Domain(s) affected | Ref |
|---|---|---|---|---|
| Mutations found in the axin1 coding sequence are scattered throughout the whole gene. There are some differences between the alterations found in different forms of tumours. Large deletions are more common in medulloblastomas, whereas missense mutations occur more frequently in hepatocellular carcinomas. Silent mutations and polymorphisms reported in axin1 are not included in this list. Protein and mRNA sequences are based on Swissprot and GenBank accession numbers 015169 and AF009674, respectively. | ||||
| aa, amino acids; ACC, adenoid cystic carcinoma; APC, adenomatous polyposis coli; bp, base pair; CRC, colorectal cancer; del, deletion; DVL, Dishevelled; EM, endometrial cancer; GSK3, glycogen synthase kinase 3; HB, hepatoblastoma; HCC, hepatocellular cancer; MB, medulloblastomas; MEKK1, mitogen activated protein/extracellular regulated kinase kinase kinase 1; nt, nucleotide; OEA, ovarian endometrioid adenocarcinoma; PP2A, protein phosphatase 2A; SCC, oesophageal squamous cell carcinoma. | ||||
| CRC | 1 | S215L | APC–MEKK1? | 94 |
| CRC | 1 | R103M | APC | 95 |
| CRC | 1 | L101P | APC | 95 |
| CRC | 3 | R353H | GSK3 | 95 |
| CRC | 1 | T122A | APC | 95 |
| CRC | 4 | E411D | GSK3 | 95 |
| CRC | 4 | M418I | GSK3 | 95 |
| CRC | 4 | R395C | GSK3 | 95 |
| CRC | 5 | G584S | β Catenin | 95 |
| CRC | 2 | Y305X | MEKK1 | 96 |
| CRC | 1 | K203M | APC | 96 |
| CRC | 2 | N307K | MEKK1 | 96 |
| CRC | 4 | H394N | GSK3 | 96 |
| CRC | 10 | P848L | Axin–DVL | 96 |
| CRC | 10 | E852G | Axin–DVL | 96 |
| CRC | 1 | S215L | APC–MEKK1? | 94 |
| MB | 1–5 (aa 89–528) | Del | APC–GSK3–β catenin | 21 |
| MB | 1–5 (aa 111–571) | Del | APC–GSK3–β catenin | 21 |
| MB | 1–5 (aa 59–532) | Del | APC–GSK3–β catenin | 21 |
| MB | 9–10 | Del | Axin–DVL | 21 |
| MB | 8–10 | Del | Axin–DVL | 21 |
| MB | 6–10 | Del | PP2A–axin–DIX | 21 |
| MB | 7–10 | Del | PP2A–axin–DIX | 21 |
| MB | 1 | P255S | APC | 21 |
| MB | 1 | P255S | MEKK1 | 20 |
| MB | 1 | S263C | MEKK1 | 20 |
| HCC | 1 | Stop | APC–DVL–axin | 2 |
| HCC | 4 | Stop | GSK3–DVL–axin | 2 |
| HCC | 4 | 5 bp del | β Catenin | 2 |
| HCC | 5 | 13 bp del | β Catenin | 2 |
| HCC | 3 | P345L | MEKK1 | 97 |
| HCC | 1 | L106R | APC | 97 |
| HCC | 2 (1076 del 1 bp) | Frameshift | MEKK1? | 97 |
| HCC | 5 | Ins QVHH | β Catenin–PP2A? | 97 |
| HCC | 5 | G425S | β Catenin | 97 |
| HB | 10 | R842Q | Axin–DIX | 97 |
| HB | 6 | G651S | PP2A? | 97 |
| HB | 2 | T95M | APC | 98 |
| EM | 4 | A397V | GSK3 | 99 |
| SCC | 4 | G419A | GSK3 | 100 |
| OEA | 4 | L416X | GSK3 | 101 |
| ACC | 7 | P661L | PP2A | 102 |
| ACC | 5 | G433E | β Catenin | 102 |
| ACC | 10 | E842K | Axin–DVL | 102 |
| ACC | 10 | F824K | Axin–DVL | 102 |
| ACC | 6 | S628Y | PP2A? | 102 |