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Description of the mutations of STK11 (NM_000455) 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 |
| RC400276 | Y60fs*1 | 60 | c.180 | delC | Frameshift |
| RC400268 | D194N | 194 | c.580 | G>A | Missense |
| RC400269 | D194Y | 194 | c.580 | G>T | Missense |
| RC400270 | P279fs*6 | 279 | c.837 | delC | Frameshift |
| RC400271 | G171S | 171 | c.511 | G>A | Missense |
| RC400272 | F354L | 354 | c.1062 | C>G | Missense |
| RC400273 | P281L | 281 | c.842 | C>T | Missense |
| RC400274 | P281fs*6 | 281 | c.842 | delC | Frameshift |
| RC400275 | V66M | 66 | c.196 | G>A | Missense |
| RC400277 | R304W | 304 | c.910 | C>T | Missense |
| RC400278 | T32T | 32 | c.96 | C>G | Missense |
| RC400279 | F263fs*22 | 263 | c.787_790 | delTTGT | Frameshift |
| RC400280 | E57fs*7 | 57 | c.169 | delG | Frameshift |
| RC400281 | Y272Y | 272 | c.816 | C>T | Missense |
| RC400282 | Q170* | 170 | c.508 | C>T | Truncation |
| RC400283 | Q37* | 37 | c.109 | C>T | Truncation |
| RC400284 | W332* | 332 | c.996 | G>A | Truncation |
| RC402189 | K44X | 44 | 130 | A>T | Gonadotrophin-independent precocious puberty |
| RC402190 | Y49X | 49 | 147 | C>A | Peutz-Jeghers syndrome |
| RC402191 | E57X | 57 | 169 | G>T | Peutz-Jeghers syndrome |
| RC402192 | Y60X | 60 | 180 | C>G | Peutz-Jeghers syndrome |
| RC402193 | Y60X | 60 | 180 | C>A | Peutz-Jeghers syndrome |
| RC402194 | L67R | 67 | 200 | T>G | Peutz-Jeghers syndrome |
| RC402195 | L67P | 67 | 200 | T>C | Peutz-Jeghers syndrome |
| RC402196 | E70X | 70 | 208 | G>T | Peutz-Jeghers syndrome |
| RC402197 | K81X | 81 | 241 | A>T | Peutz-Jeghers syndrome |
| RC402198 | K84X | 84 | 250 | A>T | Peutz-Jeghers syndrome |
| RC402199 | R86X | 86 | 256 | C>T | Peutz-Jeghers syndrome |
| RC402200 | Q100X | 100 | 298 | C>T | Peutz-Jeghers syndrome |
| RC402201 | K108R | 108 | 323 | A>G | Peutz-Jeghers syndrome |
| RC402202 | Q112X | 112 | 334 | C>T | Peutz-Jeghers syndrome |
| RC402203 | Y118X | 118 | 354 | C>A | Peutz-Jeghers syndrome |
| RC402204 | Y118X | 118 | 354 | C>G | Peutz-Jeghers syndrome |
| RC402205 | Q123X | 123 | 367 | C>T | Peutz-Jeghers syndrome |
| RC402206 | Y126X | 126 | 378 | T>G | Peutz-Jeghers syndrome |
| RC402207 | E130X | 130 | 388 | G>T | Peutz-Jeghers syndrome |
| RC402208 | C132X | 132 | 396 | C>A | Peutz-Jeghers syndrome |
| RC402209 | M136R | 136 | 407 | T>G | Peutz-Jeghers syndrome |
| RC402210 | Q137X | 137 | 409 | C>T | Peutz-Jeghers syndrome |
| RC402211 | E138X | 138 | 412 | G>T | Peutz-Jeghers syndrome |
| RC402212 | Q152X | 152 | 454 | C>T | Peutz-Jeghers syndrome |
| RC402213 | Y156X | 156 | 468 | C>G | Peutz-Jeghers syndrome |
| RC402214 | F157S | 157 | 470 | T>C | Peutz-Jeghers syndrome |
| RC402215 | D162N | 162 | 484 | G>A | Peutz-Jeghers syndrome |
| RC402216 | G163D | 163 | 488 | G>A | Peutz-Jeghers syndrome |
| RC402217 | L164M | 164 | 490 | C>A | Peutz-Jeghers syndrome |
| RC402218 | E165X | 165 | 493 | G>T | Peutz-Jeghers syndrome |
| RC402219 | L167R | 167 | 500 | T>G | Peutz-Jeghers syndrome |
| RC402220 | Q170P | 170 | 509 | A>C | Peutz-Jeghers syndrome |
| RC402221 | H174R | 174 | 521 | A>G | Peutz-Jeghers syndrome |
| RC402222 | D176N | 176 | 526 | G>A | Peutz-Jeghers syndrome |
| RC402223 | I177N | 177 | 530 | T>A | Peutz-Jeghers syndrome |
| RC402224 | N181T | 181 | 542 | A>C | Peutz-Jeghers syndrome |
| RC402225 | N181Y | 181 | 541 | A>T | Peutz-Jeghers syndrome |
| RC402226 | L182P | 182 | 545 | T>C | Peutz-Jeghers syndrome |
| RC402227 | L184P | 184 | 551 | T>C | Peutz-Jeghers syndrome ? |
| RC402228 | Q214X | 214 | 640 | C>T | Peutz-Jeghers syndrome |
| RC402229 | Q220X | 220 | 658 | C>T | Peutz-Jeghers syndrome |
| RC402230 | T230P | 230 | 688 | A>C | Peutz-Jeghers syndrome |
| RC402231 | S232P | 232 | 694 | T>C | Peutz-Jeghers syndrome |
| RC402232 | I238F | 238 | 712 | A>T | Peutz-Jeghers syndrome ? |
| RC402233 | W239C | 239 | 717 | G>C | Peutz-Jeghers syndrome ? |
| RC402234 | S240X | 240 | 719 | C>A | Peutz-Jeghers syndrome |
| RC402235 | G242E | 242 | 725 | G>A | Peutz-Jeghers syndrome |
| RC402236 | G242v | 242 | 725 | G>T | Peutz-Jeghers syndrome ? |
| RC402237 | G242W | 242 | 724 | G>T | Peutz-Jeghers syndrome |
| RC402238 | L245R | 245 | 734 | T>G | Peutz-Jeghers syndrome |
| RC402239 | Y246X | 246 | 738 | C>G | Peutz-Jeghers syndrome |
| RC402240 | G251S | 251 | 751 | G>A | Peutz-Jeghers syndrome |
| RC402241 | Y253X | 253 | 759 | C>A | Peutz-Jeghers syndrome |
| RC402242 | E256A | 256 | 767 | A>C | Peutz-Jeghers syndrome |
| RC402243 | E256X | 256 | 766 | G>T | Peutz-Jeghers syndrome |
| RC402244 | L285P | 285 | 854 | T>C | Peutz-Jeghers syndrome |
| RC402245 | K287T | 287 | 860 | A>C | Peutz-Jeghers syndrome ? |
| RC402246 | R297S | 297 | 891 | G>T | Peutz-Jeghers syndrome |
| RC402247 | R297K | 297 | 890 | G>A | Peutz-Jeghers syndrome |
| RC402248 | R304P | 304 | 911 | G>C | Peutz-Jeghers syndrome |
| RC402249 | H306Y | 306 | 916 | C>T | Peutz-Jeghers syndrome |
| RC402250 | W308C | 308 | 924 | G>T | Peutz-Jeghers syndrome |
| RC402251 | W308X | 308 | 923 | G>A | Peutz-Jeghers syndrome |
| RC402252 | P324L | 324 | 971 | C>T | Peutz-Jeghers syndrome |
| RC402253 | K416X | 416 | 1246 | A>T | Peutz-Jeghers syndrome |


