Description of the mutations of GCK (NM_000162) 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 |
| RC401137 | D4N | 4 | 10 | G>A | Diabetes, MODY |
| RC401138 | M8I | 8 | 24 | G>A | Diabetes, MODY |
| RC401139 | v16E | 16 | 47 | T>A | Diabetes, MODY |
| RC401140 | I19N | 19 | 56 | T>A | Diabetes, MODY |
| RC401141 | L20P | 20 | 59 | T>C | Diabetes, MODY |
| RC401142 | Q26X | 26 | 76 | C>T | Diabetes, MODY |
| RC401143 | L30P | 30 | 89 | T>C | Diabetes, MODY |
| RC401144 | R36W | 36 | 106 | C>T | Diabetes, NIDDM |
| RC401145 | Q38P | 38 | 113 | A>C | Diabetes, MODY2 |
| RC401146 | E40K | 40 | 118 | G>A | Diabetes, MODY |
| RC401147 | R43H | 43 | 128 | G>A | Diabetes, MODY |
| RC401148 | R43S | 43 | 127 | C>A | Diabetes, MODY |
| RC401149 | G44D | 44 | 131 | G>A | Diabetes, MODY |
| RC401150 | G44S | 44 | 130 | G>A | Diabetes mellitus, type 2 ? |
| RC401151 | H50R | 50 | 149 | A>G | Diabetes, MODY |
| RC401152 | H50Y | 50 | 148 | C>T | Diabetes, MODY |
| RC401153 | A53S | 53 | 157 | G>T | Diabetes, MODY |
| RC401154 | T60I | 60 | 179 | C>T | Diabetes, MODY2 |
| RC401155 | Y61X | 61 | 183 | C>A | Diabetes, MODY |
| RC401156 | Y61S | 61 | 182 | A>C | Diabetes, MODY |
| RC401157 | v62A | 62 | 185 | T>C | Diabetes, MODY |
| RC401158 | v62M | 62 | 184 | G>A | Diabetes, MODY |
| RC401159 | S64Y | 64 | 191 | C>A | Hyperinsulinism |
| RC401160 | T65I | 65 | 194 | C>T | Hypoglycaemia |
| RC401161 | G68v | 68 | 203 | G>T | Hypoglycaemia |
| RC401162 | E70D | 70 | 210 | A>C | Diabetes, MODY2 |
| RC401163 | E70K | 70 | 208 | G>A | Diabetes, NIDDM |
| RC401164 | G72R | 72 | 214 | G>A | Diabetes, MODY |
| RC401165 | D73G | 73 | 218 | A>G | Diabetes, MODY |
| RC401166 | S76Y | 76 | 227 | C>A | Diabetes, MODY2 |
| RC401167 | L77P | 77 | 230 | T>C | Diabetes, MODY |
| RC401168 | D78E | 78 | 234 | C>G | Diabetes, MODY |
| RC401169 | D78H | 78 | 232 | G>C | Diabetes, MODY |
| RC401170 | G80D | 80 | 239 | G>A | Diabetes, MODY |
| RC401171 | G80A | 80 | 239 | G>C | Diabetes, MODY |
| RC401172 | G80S | 80 | 238 | G>A | Diabetes, MODY |
| RC401173 | G81S | 81 | 241 | G>A | Diabetes, MODY2 |
| RC401174 | T82I | 82 | 245 | C>T | Diabetes, MODY |
| RC401175 | Q98X | 98 | 292 | C>T | Diabetes, NIDDM |
| RC401176 | W99X | 99 | 296 | G>A | Diabetes, MODY |
| RC401177 | W99R | 99 | 295 | T>C | Hypoglycaemia |
| RC401178 | v101M | 101 | 301 | G>A | Diabetes, MODY |
| RC401179 | T103N | 103 | 308 | C>A | Diabetes, MODY |
| RC401180 | Q106P | 106 | 317 | A>C | Diabetes, MODY2 |
| RC401181 | Y108X | 108 | 324 | C>A | Diabetes, MODY |
| RC401182 | Y108C | 108 | 323 | A>G | Diabetes, MODY |
| RC401183 | Y108F | 108 | 323 | A>T | Diabetes, MODY |
| RC401184 | Y108H | 108 | 322 | T>C | Hyperglycaemia |
| RC401185 | I110T | 110 | 329 | T>C | Diabetes, MODY2 |
| RC401186 | P111L | 111 | 332 | C>T | Diabetes, MODY |
| RC401187 | T116P | 116 | 346 | A>C | Diabetes, MODY |
| RC401188 | A119D | 119 | 356 | C>A | Diabetes, MODY2 |
| RC401189 | L122P | 122 | 365 | T>C | Diabetes, MODY |
| RC401190 | L122v | 122 | 364 | C>G | Diabetes, MODY |
| RC401191 | F123L | 123 | 369 | C>G | Diabetes, MODY2 |
| RC401192 | C129Y | 129 | 386 | G>A | Diabetes, MODY |
| RC401193 | I130T | 130 | 389 | T>C | Diabetes, MODY |
| RC401194 | S131P | 131 | 391 | T>C | Diabetes mellitus |
| RC401195 | D132N | 132 | 394 | G>A | Diabetes, MODY2 |
| RC401196 | L134P | 134 | 401 | T>C | Diabetes, MODY |
| RC401197 | H137R | 137 | 410 | A>G | Diabetes, MODY |
| RC401198 | H137D | 137 | 409 | C>G | Diabetes, MODY2 |
| RC401199 | Q138P | 138 | 413 | A>C | Diabetes, MODY |
| RC401200 | L146R | 146 | 437 | T>G | Diabetes, MODY2 |
| RC401201 | T149I | 149 | 446 | C>T | Diabetes, MODY2 |
| RC401202 | T149P | 149 | 445 | A>C | Diabetes, MODY |
| RC401203 | F150L | 150 | 450 | C>A | Diabetes, MODY |
| RC401204 | F150S | 150 | 449 | T>C | Hyperglycaemia |
| RC401205 | F152L | 152 | 454 | T>C | Diabetes, MODY |
| RC401206 | H156Y | 156 | 466 | C>T | Diabetes, MODY |
| RC401207 | E157K | 157 | 469 | G>A | Diabetes, MODY |
| RC401208 | D158A | 158 | 473 | A>C | Diabetes, MODY |
| RC401209 | K161N | 161 | 483 | G>C | Diabetes, MODY |
| RC401210 | G162D | 162 | 485 | G>A | Diabetes, MODY2 |
| RC401211 | L164P | 164 | 491 | T>C | Diabetes mellitus, post transplant |
| RC401212 | L164F | 164 | 490 | C>T | Diabetes, MODY2 |
| RC401213 | L165F | 165 | 493 | C>T | Diabetes, MODY |
| RC401214 | T168A | 168 | 502 | A>G | Diabetes, MODY2 |
| RC401215 | T168P | 168 | 502 | A>C | Diabetes, MODY |
| RC401216 | K169N | 169 | 507 | G>T | Diabetes, MODY |
| RC401217 | G170D | 170 | 509 | G>A | Diabetes, MODY2 |
| RC401218 | F171L | 171 | 511 | T>C | Diabetes, MODY |
| RC401219 | A173S | 173 | 517 | G>T | Diabetes, MODY |
| RC401220 | G175E | 175 | 524 | G>A | Diabetes, MODY |
| RC401221 | G175v | 175 | 524 | G>T | Diabetes, MODY |
| RC401222 | G175A | 175 | 524 | G>C | Hyperglycaemia |
| RC401223 | G175R | 175 | 523 | G>A | Diabetes, NIDDM |
| RC401224 | A176S | 176 | 526 | G>T | Diabetes, MODY |
| RC401225 | G178E | 178 | 533 | G>A | Diabetes, MODY |
| RC401226 | G178R | 178 | 532 | G>C | Diabetes, MODY |
| RC401227 | N180K | 180 | 540 | T>G | Diabetes, MODY |
| RC401228 | v181A | 181 | 542 | T>C | Diabetes, MODY |
| RC401229 | v182L | 182 | 544 | G>T | Diabetes, MODY |
| RC401230 | v182L | 182 | 544 | G>C | Diabetes, gestational |
| RC401231 | v182M | 182 | 544 | G>A | Diabetes, NIDDM |
| RC401232 | R186Q | 186 | 557 | G>A | Diabetes, MODY |
| RC401233 | R186X | 186 | 556 | C>T | Diabetes, NIDDM |
| RC401234 | D187Y | 187 | 559 | G>T | Diabetes, MODY |
| RC401235 | A188v | 188 | 563 | C>T | Diabetes, MODY |
| RC401236 | A188T | 188 | 562 | G>A | Diabetes, NIDDM |
| RC401237 | R191Q | 191 | 572 | G>A | Diabetes, MODY |
| RC401238 | R191W | 191 | 571 | C>T | Diabetes, gestational |
| RC401239 | G193R | 193 | 577 | G>A | Diabetes, MODY |
| RC401240 | v200L | 200 | 598 | G>C | Diabetes, MODY |
| RC401241 | M202R | 202 | 605 | T>G | Diabetes, MODY |
| RC401242 | M202T | 202 | 605 | T>C | Diabetes, MODY2 |
| RC401243 | v203A | 203 | 608 | T>C | Diabetes, NIDDM |
| RC401244 | T206M | 206 | 617 | C>T | Diabetes, MODY |
| RC401245 | T206R | 206 | 617 | C>G | Diabetes, MODY |
| RC401246 | T206P | 206 | 616 | A>C | Diabetes, MODY2 |
| RC401247 | A208T | 208 | 622 | G>A | Diabetes, MODY2 |
| RC401248 | A208P | 208 | 622 | G>C | Diabetes, MODY2 |
| RC401249 | T209M | 209 | 626 | C>T | Diabetes, NIDDM |
| RC401250 | M210K | 210 | 629 | T>A | Diabetes mellitus, neonatal |
| RC401251 | M210T | 210 | 629 | T>C | Diabetes, MODY |
| RC401252 | S212F | 212 | 635 | C>T | Diabetes, MODY2 |
| RC401253 | C213Y | 213 | 638 | G>A | Diabetes, MODY2 |
| RC401254 | C213R | 213 | 637 | T>C | Diabetes, MODY |
| RC401255 | Y214C | 214 | 641 | A>G | Hyperinsulinism |
| RC401256 | Y215X | 215 | 645 | C>G | Diabetes, MODY |
| RC401257 | E216X | 216 | 646 | G>T | Diabetes, MODY |
| RC401258 | D217v | 217 | 650 | A>T | Diabetes, gestational |
| RC401259 | C220X | 220 | 660 | C>A | Diabetes, MODY |
| RC401260 | E221K | 221 | 661 | G>A | Diabetes, MODY |
| RC401261 | G223S | 223 | 667 | G>A | Diabetes, MODY |
| RC401262 | M224T | 224 | 671 | T>C | Diabetes, MODY |
| RC401263 | M224R | 224 | 671 | T>G | Diabetes, MODY |
| RC401264 | I225M | 225 | 675 | C>G | Diabetes, MODY |
| RC401265 | I225F | 225 | 673 | A>T | Diabetes, MODY |
| RC401266 | v226M | 226 | 676 | G>A | Diabetes, MODY |
| RC401267 | G227S | 227 | 679 | G>A | Diabetes, MODY |
| RC401268 | G227C | 227 | 679 | G>T | Diabetes, MODY |
| RC401269 | T228R | 228 | 683 | C>G | Diabetes, MODY |
| RC401270 | T228M | 228 | 683 | C>T | Diabetes, NIDDM |
| RC401271 | T228A | 228 | 682 | A>G | Diabetes, MODY |
| RC401272 | N231S | 231 | 692 | A>G | Diabetes, MODY2 |
| RC401273 | N231H | 231 | 691 | A>C | Diabetes, MODY |
| RC401274 | C233R | 233 | 697 | T>C | Diabetes, MODY |
| RC401275 | Y234X | 234 | 702 | C>A | Diabetes, MODY |
| RC401276 | M235T | 235 | 704 | T>C | Diabetes, MODY |
| RC401277 | M235v | 235 | 703 | A>G | Diabetes, MODY2 |
| RC401278 | E237K | 237 | 709 | G>A | Diabetes, MODY |
| RC401279 | Q239R | 239 | 716 | A>G | Diabetes mellitus |
| RC401280 | G246E | 246 | 737 | G>A | Diabetes, MODY2 |
| RC401281 | E248K | 248 | 742 | G>A | Diabetes, MODY |
| RC401282 | E248X | 248 | 742 | G>T | Diabetes, MODY |
| RC401283 | R250C | 250 | 748 | C>T | Diabetes, MODY |
| RC401284 | M251I | 251 | 753 | G>A | Diabetes, MODY |
| RC401285 | M251v | 251 | 751 | A>G | Diabetes, MODY |
| RC401286 | C252Y | 252 | 755 | G>A | Diabetes, MODY |
| RC401287 | C252R | 252 | 754 | T>C | Diabetes, MODY |
| RC401288 | C252G | 252 | 754 | T>G | Diabetes, MODY |
| RC401289 | T255A | 255 | 763 | A>G | Diabetes, MODY |
| RC401290 | E256D | 256 | 768 | G>C | Diabetes, MODY2 |
| RC401291 | E256K | 256 | 766 | G>A | Diabetes, NIDDM |
| RC401292 | W257R | 257 | 769 | T>C | Diabetes, NIDDM |
| RC401293 | G258D | 258 | 773 | G>A | Hyperglycaemia |
| RC401294 | G258C | 258 | 772 | G>T | Diabetes, MODY |
| RC401295 | A259T | 259 | 775 | G>A | Hyperglycaemia |
| RC401296 | G261E | 261 | 782 | G>A | Diabetes, NIDDM |
| RC401297 | G261R | 261 | 781 | G>A | Diabetes, NIDDM |
| RC401298 | S263P | 263 | 787 | T>C | Diabetes, MODY |
| RC401299 | G264S | 264 | 790 | G>A | Diabetes, MODY |
| RC401300 | E265X | 265 | 793 | G>T | Diabetes mellitus |
| RC401301 | E265K | 265 | 793 | G>A | Diabetes, MODY2 |
| RC401302 | E268X | 268 | 802 | G>T | Diabetes, MODY |
| RC401303 | D274v | 274 | 821 | A>T | Diabetes, gestational |
| RC401304 | R275C | 275 | 823 | C>T | Diabetes, MODY |
| RC401305 | D278E | 278 | 834 | C>A | Diabetes, MODY |
| RC401306 | E279X | 279 | 835 | G>T | Diabetes, NIDDM |
| RC401307 | E279Q | 279 | 835 | G>C | Diabetes, NIDDM |
| RC401308 | S280N | 280 | 839 | G>A | Diabetes, gestational |
| RC401309 | S281F | 281 | 842 | C>T | Diabetes, MODY |
| RC401310 | Q286X | 286 | 856 | C>T | Diabetes, MODY |
| RC401311 | E290X | 290 | 868 | G>T | Diabetes, MODY2 |
| RC401312 | G294D | 294 | 881 | G>A | Diabetes, MODY |
| RC401313 | Y297X | 297 | 891 | C>A | Diabetes, MODY |
| RC401314 | M298K | 298 | 893 | T>A | Diabetes, MODY |
| RC401315 | G299R | 299 | 895 | G>C | Diabetes, MODY |
| RC401316 | E300K | 300 | 898 | G>A | Diabetes, NIDDM |
| RC401317 | E300Q | 300 | 898 | G>C | Diabetes, NIDDM |
| RC401318 | R303W | 303 | 907 | C>T | Diabetes, gestational |
| RC401319 | L304P | 304 | 911 | T>C | Diabetes, MODY |
| RC401320 | R308W | 308 | 922 | A>T | Diabetes, MODY2 |
| RC401321 | L309P | 309 | 926 | T>C | Diabetes, NIDDM |
| RC401322 | E312Q | 312 | 934 | G>C | Diabetes, gestational |
| RC401323 | L314P | 314 | 941 | T>C | Diabetes, MODY2 |
| RC401324 | L315H | 315 | 944 | T>A | Diabetes, MODY |
| RC401325 | L315F | 315 | 943 | C>T | Diabetes, MODY |
| RC401326 | F316v | 316 | 946 | T>G | Diabetes, MODY |
| RC401327 | G318A | 318 | 953 | G>C | Diabetes, MODY |
| RC401328 | G318R | 318 | 952 | G>A | Diabetes, MODY |
| RC401329 | L324P | 324 | 971 | T>C | Diabetes, MODY |
| RC401330 | A329v | 329 | 986 | C>T | Diabetes, gestational |
| RC401331 | R333H | 333 | 998 | G>A | Diabetes, gestational |
| RC401332 | S336L | 336 | 1007 | C>T | Diabetes, MODY |
| RC401333 | Q337X | 337 | 1009 | C>T | Diabetes, MODY2 |
| RC401334 | E339G | 339 | 1016 | A>G | Diabetes, MODY2 |
| RC401335 | E339K | 339 | 1015 | G>A | Diabetes, gestational |
| RC401336 | S340T | 340 | 1019 | G>C | Diabetes, MODY |
| RC401337 | T342P | 342 | 1024 | A>C | Diabetes, MODY ? |
| RC401338 | R358X | 358 | 1072 | C>T | Diabetes, MODY2 |
| RC401339 | S360X | 360 | 1079 | C>A | Diabetes, MODY |
| RC401340 | C364X | 364 | 1092 | C>A | Diabetes, MODY2 |
| RC401341 | v367M | 367 | 1099 | G>A | Diabetes, MODY |
| RC401342 | R369P | 369 | 1106 | G>C | Diabetes, MODY |
| RC401343 | R369C | 369 | 1105 | C>T | Hyperglycaemia |
| RC401344 | R377H | 377 | 1130 | G>A | Diabetes, MODY |
| RC401345 | R377C | 377 | 1129 | C>T | Diabetes, MODY2 |
| RC401346 | A378v | 378 | 1133 | C>T | Diabetes mellitus, neonatal |
| RC401347 | A378T | 378 | 1132 | G>A | Diabetes, MODY |
| RC401348 | A379v | 379 | 1136 | C>T | Diabetes, MODY |
| RC401349 | H380Q | 380 | 1140 | C>A | Diabetes, MODY |
| RC401350 | H380D | 380 | 1138 | C>G | Diabetes, MODY |
| RC401351 | C382Y | 382 | 1145 | G>A | Hyperglycaemia |
| RC401352 | S383L | 383 | 1148 | C>T | Diabetes, MODY |
| RC401353 | S383X | 383 | 1148 | C>A | Diabetes, MODY |
| RC401354 | A384T | 384 | 1150 | G>A | Hyperglycaemia |
| RC401355 | G385v | 385 | 1154 | G>T | Diabetes, MODY2 |
| RC401356 | A387v | 387 | 1160 | C>T | Diabetes, MODY |
| RC401357 | A387T | 387 | 1159 | G>A | Diabetes, MODY |
| RC401358 | v389A | 389 | 1166 | T>C | Diabetes, MODY2 |
| RC401359 | R392S | 392 | 1174 | C>A | Diabetes, MODY2 |
| RC401360 | R392C | 392 | 1174 | C>T | Hyperglycaemia |
| RC401361 | E395X | 395 | 1183 | G>T | Diabetes, MODY |
| RC401362 | R397L | 397 | 1190 | G>T | Diabetes mellitus, neonatal |
| RC401363 | E399X | 399 | 1195 | G>T | Diabetes, MODY |
| RC401364 | I404S | 404 | 1211 | T>G | Diabetes, MODY |
| RC401365 | G407S | 407 | 1219 | G>A | Diabetes, MODY |
| RC401366 | S411F | 411 | 1232 | C>T | Diabetes, MODY |
| RC401367 | K414E | 414 | 1240 | A>G | Diabetes, NIDDM |
| RC401368 | L415v | 415 | 1243 | C>G | Diabetes, MODY |
| RC401369 | H416P | 416 | 1247 | A>C | Diabetes, MODY |
| RC401370 | F419L | 419 | 1255 | T>C | Diabetes, MODY |
| RC401371 | K420E | 420 | 1258 | A>G | Diabetes, MODY ? |
| RC401372 | C434Y | 434 | 1301 | G>A | Diabetes, MODY |
| RC401373 | C434F | 434 | 1301 | G>T | Diabetes, MODY |
| RC401374 | I436N | 436 | 1307 | T>A | Diabetes, MODY |
| RC401375 | S441W | 441 | 1322 | C>G | Diabetes, MODY |
| RC401376 | G446R | 446 | 1336 | G>C | Diabetes, MODY |
| RC401377 | R447Q | 447 | 1340 | G>A | Diabetes, MODY |
| RC401378 | S453X | 453 | 1358 | C>A | Diabetes, MODY |
| RC401379 | S453L | 453 | 1358 | C>T | Diabetes, MODY |
| RC401380 | A454v | 454 | 1361 | C>T | Diabetes, MODY |
| RC401381 | A454E | 454 | 1361 | C>A | Diabetes, MODY |
| RC401382 | v455E | 455 | 1364 | T>A | Hyperglycaemia |
| RC401383 | v455M | 455 | 1363 | G>A | Hyperinsulinism |
| RC401384 | A456v | 456 | 1367 | C>T | Hypoglycaemia |
| RC401385 | C457W | 457 | 1371 | T>G | Diabetes, MODY |
