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Description of the mutations of CTNNB1 (NM_001904) Mutants
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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 |
| RC400198 | S45F | 45 | c.134 | C>T | Missense |
| RC400199 | S45A | 45 | c.133 | T>G | Missense |
| RC400200 | S45P | 45 | c.133 | T>C | Missense |
| RC400201 | S45Y | 45 | c.134 | C>A | Missense |
| RC400202 | S45C | 45 | c.134 | C>G | Missense |
| RC400203 | S45del | 45 | c.133_135 | delTCT | deletion |
| RC400204 | D32G | 32 | c.95 | A>G | Missense |
| RC400205 | D32Y | 32 | c.94 | G>T | Missense |
| RC400206 | D32N | 32 | c.94 | G>A | Missense |
| RC400207 | D32V | 32 | c.95 | A>T | Missense |
| RC400208 | D32A | 32 | c.95 | A>C | Missense |
| RC400209 | D32H | 32 | c.94 | G>C | Missense |
| RC400210 | S33Y | 33 | c.98 | C>A | Missense |
| RC400211 | S33A | 33 | c.97 | T>G | Missense |
| RC400212 | S33P | 33 | c.97 | T>C | Missense |
| RC400213 | S33L | 33 | c.97_98 | TC>CT | Missense |
| RC400214 | G34V | 34 | c.101 | G>T | Missense |
| RC400215 | G34E | 34 | c.101 | G>A | Missense |
| RC400216 | R34R | 34 | c.100 | G>A | Missense |
| RC400217 | G48D | 48 | c.143 | G>A | Missense |
| RC400218 | E53K | 53 | c.157 | G>A | Missense |
| RC400219 | A43V | 43 | c.128 | C>T | Missense |
| RC400220 | G38D | 38 | c.113 | G>A | Missense |
| RC400221 | G38P | 38 | c.112_114 | GGT>CCC | Missense |
| RC400222 | S37F | 37 | c.110 | C>T | Missense |
| RC400223 | S37C | 37 | c.110 | C>G | Missense |
| RC400224 | S37Y | 37 | c.110 | C>A | Missense |
| RC400225 | S37P | 37 | c.109 | T>C | Missense |
| RC400226 | S37A | 37 | c.109 | T>G | Missense |
| RC400227 | T41A | 41 | c.121 | A>G | Missense |
| RC400228 | T41I | 41 | c.122 | C>T | Missense |
| RC400229 | H36P | 36 | c.107 | A>C | Missense |
| RC400230 | C619S | 619 | c.1855 | T>A | Missense |
| RC400231 | T40I | 40 | c.119 | C>T | Missense |
| RC400232 | H36Y | 36 | c.106 | C>T | Missense |
| RC400233 | I35S | 35 | c.104 | T>G | Missense |
| RC400234 | P44A | 44 | c.130 | C>G | Missense |
| RC400235 | A5_A80>D | 5 | c.14_241 | del228 | deletion |
| RC400236 | T42R | 42 | c.125 | C>G | Missense |
| RC400237 | A43T | 43 | c.127 | G>A | Missense |
| RC400238 | D58N | 58 | c.172 | G>A | Missense |
| RC400239 | A21T | 21 | c.61 | G>A | Missense |
| RC400240 | S29F | 29 | c.86 | C>T | Missense |
| RC400241 | W25_D32del | 25 | c.74_97 | del24 | deletion |
| RC400242 | A5_Q143del | 5 | c.14_430 | del417 | deletion |
| RC402574 | N287S | 287 | 860 | A>G | Colorectal adenoma? |


