Description of the mutations of AXIN1 (NM_003502) Mutants
Keys for Mutation Description
A.A. substitution
Truncation
NT deletion
NT insertion
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted
| SKU | Mutation Description | Affected Codon# | Affected NT# | Description | Effect |
| RC400173 | G652S | 652 | c.1954_55 | GG>TC | Missense |
| RC400174 | R841Q | 841 | c.2521_22 | CG>GA | Missense |
| RC400175 | P345L | 345 | c.1034 | C>T | Missense |
| RC400176 | L106R | 106 | c.317 | T>G | Missense |
| RC400177 | G425S | 425 | c.1273 | G>A | Missense |
