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HomeAll Cancer Mutant ClonesGCK Mutants

Description of the mutations of GCK (NM_000162) Mutants

Keys for Mutation Description

A.A. substitution
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

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC401137 D4N410G>ADiabetes, MODY
RC401138 M8I824G>ADiabetes, MODY
RC401139 v16E1647T>ADiabetes, MODY
RC401140 I19N1956T>ADiabetes, MODY
RC401141 L20P2059T>CDiabetes, MODY
RC401142 Q26X2676C>TDiabetes, MODY
RC401143 L30P3089T>CDiabetes, MODY
RC401144 R36W36106C>TDiabetes, NIDDM
RC401145 Q38P38113A>CDiabetes, MODY2
RC401146 E40K40118G>ADiabetes, MODY
RC401147 R43H43128G>ADiabetes, MODY
RC401148 R43S43127C>ADiabetes, MODY
RC401149 G44D44131G>ADiabetes, MODY
RC401150 G44S44130G>ADiabetes mellitus, type 2 ?
RC401151 H50R50149A>GDiabetes, MODY
RC401152 H50Y50148C>TDiabetes, MODY
RC401153 A53S53157G>TDiabetes, MODY
RC401154 T60I60179C>TDiabetes, MODY2
RC401155 Y61X61183C>ADiabetes, MODY
RC401156 Y61S61182A>CDiabetes, MODY
RC401157 v62A62185T>CDiabetes, MODY
RC401158 v62M62184G>ADiabetes, MODY
RC401159 S64Y64191C>AHyperinsulinism
RC401160 T65I65194C>THypoglycaemia
RC401161 G68v68203G>THypoglycaemia
RC401162 E70D70210A>CDiabetes, MODY2
RC401163 E70K70208G>ADiabetes, NIDDM
RC401164 G72R72214G>ADiabetes, MODY
RC401165 D73G73218A>GDiabetes, MODY
RC401166 S76Y76227C>ADiabetes, MODY2
RC401167 L77P77230T>CDiabetes, MODY
RC401168 D78E78234C>GDiabetes, MODY
RC401169 D78H78232G>CDiabetes, MODY
RC401170 G80D80239G>ADiabetes, MODY
RC401171 G80A80239G>CDiabetes, MODY
RC401172 G80S80238G>ADiabetes, MODY
RC401173 G81S81241G>ADiabetes, MODY2
RC401174 T82I82245C>TDiabetes, MODY
RC401175 Q98X98292C>TDiabetes, NIDDM
RC401176 W99X99296G>ADiabetes, MODY
RC401177 W99R99295T>CHypoglycaemia
RC401178 v101M101301G>ADiabetes, MODY
RC401179 T103N103308C>ADiabetes, MODY
RC401180 Q106P106317A>CDiabetes, MODY2
RC401181 Y108X108324C>ADiabetes, MODY
RC401182 Y108C108323A>GDiabetes, MODY
RC401183 Y108F108323A>TDiabetes, MODY
RC401184 Y108H108322T>CHyperglycaemia
RC401185 I110T110329T>CDiabetes, MODY2
RC401186 P111L111332C>TDiabetes, MODY
RC401187 T116P116346A>CDiabetes, MODY
RC401188 A119D119356C>ADiabetes, MODY2
RC401189 L122P122365T>CDiabetes, MODY
RC401190 L122v122364C>GDiabetes, MODY
RC401191 F123L123369C>GDiabetes, MODY2
RC401192 C129Y129386G>ADiabetes, MODY
RC401193 I130T130389T>CDiabetes, MODY
RC401194 S131P131391T>CDiabetes mellitus
RC401195 D132N132394G>ADiabetes, MODY2
RC401196 L134P134401T>CDiabetes, MODY
RC401197 H137R137410A>GDiabetes, MODY
RC401198 H137D137409C>GDiabetes, MODY2
RC401199 Q138P138413A>CDiabetes, MODY
RC401200 L146R146437T>GDiabetes, MODY2
RC401201 T149I149446C>TDiabetes, MODY2
RC401202 T149P149445A>CDiabetes, MODY
RC401203 F150L150450C>ADiabetes, MODY
RC401204 F150S150449T>CHyperglycaemia
RC401205 F152L152454T>CDiabetes, MODY
RC401206 H156Y156466C>TDiabetes, MODY
RC401207 E157K157469G>ADiabetes, MODY
RC401208 D158A158473A>CDiabetes, MODY
RC401209 K161N161483G>CDiabetes, MODY
RC401210 G162D162485G>ADiabetes, MODY2
RC401211 L164P164491T>CDiabetes mellitus, post transplant
RC401212 L164F164490C>TDiabetes, MODY2
RC401213 L165F165493C>TDiabetes, MODY
RC401214 T168A168502A>GDiabetes, MODY2
RC401215 T168P168502A>CDiabetes, MODY
RC401216 K169N169507G>TDiabetes, MODY
RC401217 G170D170509G>ADiabetes, MODY2
RC401218 F171L171511T>CDiabetes, MODY
RC401219 A173S173517G>TDiabetes, MODY
RC401220 G175E175524G>ADiabetes, MODY
RC401221 G175v175524G>TDiabetes, MODY
RC401222 G175A175524G>CHyperglycaemia
RC401223 G175R175523G>ADiabetes, NIDDM
RC401224 A176S176526G>TDiabetes, MODY
RC401225 G178E178533G>ADiabetes, MODY
RC401226 G178R178532G>CDiabetes, MODY
RC401227 N180K180540T>GDiabetes, MODY
RC401228 v181A181542T>CDiabetes, MODY
RC401229 v182L182544G>TDiabetes, MODY
RC401230 v182L182544G>CDiabetes, gestational
RC401231 v182M182544G>ADiabetes, NIDDM
RC401232 R186Q186557G>ADiabetes, MODY
RC401233 R186X186556C>TDiabetes, NIDDM
RC401234 D187Y187559G>TDiabetes, MODY
RC401235 A188v188563C>TDiabetes, MODY
RC401236 A188T188562G>ADiabetes, NIDDM
RC401237 R191Q191572G>ADiabetes, MODY
RC401238 R191W191571C>TDiabetes, gestational
RC401239 G193R193577G>ADiabetes, MODY
RC401240 v200L200598G>CDiabetes, MODY
RC401241 M202R202605T>GDiabetes, MODY
RC401242 M202T202605T>CDiabetes, MODY2
RC401243 v203A203608T>CDiabetes, NIDDM
RC401244 T206M206617C>TDiabetes, MODY
RC401245 T206R206617C>GDiabetes, MODY
RC401246 T206P206616A>CDiabetes, MODY2
RC401247 A208T208622G>ADiabetes, MODY2
RC401248 A208P208622G>CDiabetes, MODY2
RC401249 T209M209626C>TDiabetes, NIDDM
RC401250 M210K210629T>ADiabetes mellitus, neonatal
RC401251 M210T210629T>CDiabetes, MODY
RC401252 S212F212635C>TDiabetes, MODY2
RC401253 C213Y213638G>ADiabetes, MODY2
RC401254 C213R213637T>CDiabetes, MODY
RC401255 Y214C214641A>GHyperinsulinism
RC401256 Y215X215645C>GDiabetes, MODY
RC401257 E216X216646G>TDiabetes, MODY
RC401258 D217v217650A>TDiabetes, gestational
RC401259 C220X220660C>ADiabetes, MODY
RC401260 E221K221661G>ADiabetes, MODY
RC401261 G223S223667G>ADiabetes, MODY
RC401262 M224T224671T>CDiabetes, MODY
RC401263 M224R224671T>GDiabetes, MODY
RC401264 I225M225675C>GDiabetes, MODY
RC401265 I225F225673A>TDiabetes, MODY
RC401266 v226M226676G>ADiabetes, MODY
RC401267 G227S227679G>ADiabetes, MODY
RC401268 G227C227679G>TDiabetes, MODY
RC401269 T228R228683C>GDiabetes, MODY
RC401270 T228M228683C>TDiabetes, NIDDM
RC401271 T228A228682A>GDiabetes, MODY
RC401272 N231S231692A>GDiabetes, MODY2
RC401273 N231H231691A>CDiabetes, MODY
RC401274 C233R233697T>CDiabetes, MODY
RC401275 Y234X234702C>ADiabetes, MODY
RC401276 M235T235704T>CDiabetes, MODY
RC401277 M235v235703A>GDiabetes, MODY2
RC401278 E237K237709G>ADiabetes, MODY
RC401279 Q239R239716A>GDiabetes mellitus
RC401280 G246E246737G>ADiabetes, MODY2
RC401281 E248K248742G>ADiabetes, MODY
RC401282 E248X248742G>TDiabetes, MODY
RC401283 R250C250748C>TDiabetes, MODY
RC401284 M251I251753G>ADiabetes, MODY
RC401285 M251v251751A>GDiabetes, MODY
RC401286 C252Y252755G>ADiabetes, MODY
RC401287 C252R252754T>CDiabetes, MODY
RC401288 C252G252754T>GDiabetes, MODY
RC401289 T255A255763A>GDiabetes, MODY
RC401290 E256D256768G>CDiabetes, MODY2
RC401291 E256K256766G>ADiabetes, NIDDM
RC401292 W257R257769T>CDiabetes, NIDDM
RC401293 G258D258773G>AHyperglycaemia
RC401294 G258C258772G>TDiabetes, MODY
RC401295 A259T259775G>AHyperglycaemia
RC401296 G261E261782G>ADiabetes, NIDDM
RC401297 G261R261781G>ADiabetes, NIDDM
RC401298 S263P263787T>CDiabetes, MODY
RC401299 G264S264790G>ADiabetes, MODY
RC401300 E265X265793G>TDiabetes mellitus
RC401301 E265K265793G>ADiabetes, MODY2
RC401302 E268X268802G>TDiabetes, MODY
RC401303 D274v274821A>TDiabetes, gestational
RC401304 R275C275823C>TDiabetes, MODY
RC401305 D278E278834C>ADiabetes, MODY
RC401306 E279X279835G>TDiabetes, NIDDM
RC401307 E279Q279835G>CDiabetes, NIDDM
RC401308 S280N280839G>ADiabetes, gestational
RC401309 S281F281842C>TDiabetes, MODY
RC401310 Q286X286856C>TDiabetes, MODY
RC401311 E290X290868G>TDiabetes, MODY2
RC401312 G294D294881G>ADiabetes, MODY
RC401313 Y297X297891C>ADiabetes, MODY
RC401314 M298K298893T>ADiabetes, MODY
RC401315 G299R299895G>CDiabetes, MODY
RC401316 E300K300898G>ADiabetes, NIDDM
RC401317 E300Q300898G>CDiabetes, NIDDM
RC401318 R303W303907C>TDiabetes, gestational
RC401319 L304P304911T>CDiabetes, MODY
RC401320 R308W308922A>TDiabetes, MODY2
RC401321 L309P309926T>CDiabetes, NIDDM
RC401322 E312Q312934G>CDiabetes, gestational
RC401323 L314P314941T>CDiabetes, MODY2
RC401324 L315H315944T>ADiabetes, MODY
RC401325 L315F315943C>TDiabetes, MODY
RC401326 F316v316946T>GDiabetes, MODY
RC401327 G318A318953G>CDiabetes, MODY
RC401328 G318R318952G>ADiabetes, MODY
RC401329 L324P324971T>CDiabetes, MODY
RC401330 A329v329986C>TDiabetes, gestational
RC401331 R333H333998G>ADiabetes, gestational
RC401332 S336L3361007C>TDiabetes, MODY
RC401333 Q337X3371009C>TDiabetes, MODY2
RC401334 E339G3391016A>GDiabetes, MODY2
RC401335 E339K3391015G>ADiabetes, gestational
RC401336 S340T3401019G>CDiabetes, MODY
RC401337 T342P3421024A>CDiabetes, MODY ?
RC401338 R358X3581072C>TDiabetes, MODY2
RC401339 S360X3601079C>ADiabetes, MODY
RC401340 C364X3641092C>ADiabetes, MODY2
RC401341 v367M3671099G>ADiabetes, MODY
RC401342 R369P3691106G>CDiabetes, MODY
RC401343 R369C3691105C>THyperglycaemia
RC401344 R377H3771130G>ADiabetes, MODY
RC401345 R377C3771129C>TDiabetes, MODY2
RC401346 A378v3781133C>TDiabetes mellitus, neonatal
RC401347 A378T3781132G>ADiabetes, MODY
RC401348 A379v3791136C>TDiabetes, MODY
RC401349 H380Q3801140C>ADiabetes, MODY
RC401350 H380D3801138C>GDiabetes, MODY
RC401351 C382Y3821145G>AHyperglycaemia
RC401352 S383L3831148C>TDiabetes, MODY
RC401353 S383X3831148C>ADiabetes, MODY
RC401354 A384T3841150G>AHyperglycaemia
RC401355 G385v3851154G>TDiabetes, MODY2
RC401356 A387v3871160C>TDiabetes, MODY
RC401357 A387T3871159G>ADiabetes, MODY
RC401358 v389A3891166T>CDiabetes, MODY2
RC401359 R392S3921174C>ADiabetes, MODY2
RC401360 R392C3921174C>THyperglycaemia
RC401361 E395X3951183G>TDiabetes, MODY
RC401362 R397L3971190G>TDiabetes mellitus, neonatal
RC401363 E399X3991195G>TDiabetes, MODY
RC401364 I404S4041211T>GDiabetes, MODY
RC401365 G407S4071219G>ADiabetes, MODY
RC401366 S411F4111232C>TDiabetes, MODY
RC401367 K414E4141240A>GDiabetes, NIDDM
RC401368 L415v4151243C>GDiabetes, MODY
RC401369 H416P4161247A>CDiabetes, MODY
RC401370 F419L4191255T>CDiabetes, MODY
RC401371 K420E4201258A>GDiabetes, MODY ?
RC401372 C434Y4341301G>ADiabetes, MODY
RC401373 C434F4341301G>TDiabetes, MODY
RC401374 I436N4361307T>ADiabetes, MODY
RC401375 S441W4411322C>GDiabetes, MODY
RC401376 G446R4461336G>CDiabetes, MODY
RC401377 R447Q4471340G>ADiabetes, MODY
RC401378 S453X4531358C>ADiabetes, MODY
RC401379 S453L4531358C>TDiabetes, MODY
RC401380 A454v4541361C>TDiabetes, MODY
RC401381 A454E4541361C>ADiabetes, MODY
RC401382 v455E4551364T>AHyperglycaemia
RC401383 v455M4551363G>AHyperinsulinism
RC401384 A456v4561367C>THypoglycaemia
RC401385 C457W4571371T>GDiabetes, MODY

 

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