##gff-version 3 P35557 UniProtKB Chain 1 465 . . . ID=PRO_0000197593;Note=Hexokinase-4 P35557 UniProtKB Domain 10 454 . . . Note=Hexokinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01084 P35557 UniProtKB Region 67 203 . . . Note=Hexokinase small subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01084 P35557 UniProtKB Region 204 443 . . . Note=Hexokinase large subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01084 P35557 UniProtKB Binding site 78 83 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P19367 P35557 UniProtKB Binding site 151 152 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15016359;Dbxref=PMID:15016359 P35557 UniProtKB Binding site 168 169 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15016359;Dbxref=PMID:15016359 P35557 UniProtKB Binding site 204 205 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15016359;Dbxref=PMID:15016359 P35557 UniProtKB Binding site 228 228 . . . Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:22101819,ECO:0007744|PDB:3FGU,ECO:0007744|PDB:3ID8;Dbxref=PMID:22101819 P35557 UniProtKB Binding site 231 231 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15016359;Dbxref=PMID:15016359 P35557 UniProtKB Binding site 256 256 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15016359;Dbxref=PMID:15016359 P35557 UniProtKB Binding site 290 290 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15016359;Dbxref=PMID:15016359 P35557 UniProtKB Binding site 295 296 . . . Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:22101819,ECO:0007744|PDB:3FGU,ECO:0007744|PDB:3ID8;Dbxref=PMID:22101819 P35557 UniProtKB Binding site 332 336 . . . Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:22101819,ECO:0007744|PDB:3FGU,ECO:0007744|PDB:3ID8;Dbxref=PMID:22101819 P35557 UniProtKB Binding site 411 415 . . . Ontology_term=ECO:0000269,ECO:0007744,ECO:0007744;evidence=ECO:0000269|PubMed:22101819,ECO:0007744|PDB:3FGU,ECO:0007744|PDB:3ID8;Dbxref=PMID:22101819 P35557 UniProtKB Alternative sequence 1 15 . . . ID=VSP_002074;Note=In isoform 2. MLDDRARMEAAKKEK->MAMDVTRSQAQTALTL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P35557 UniProtKB Alternative sequence 1 15 . . . ID=VSP_002075;Note=In isoform 3. MLDDRARMEAAKKEK->MPRPRSQLPQPNSQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35557 UniProtKB Natural variant 4 4 . . . ID=VAR_003692;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=dbSNP:rs202091228,PMID:8325892 P35557 UniProtKB Natural variant 11 11 . . . ID=VAR_010583;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8454109;Dbxref=dbSNP:rs116093166,PMID:8454109 P35557 UniProtKB Natural variant 16 16 . . . ID=VAR_079430;Note=In MODY2. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 19 19 . . . ID=VAR_079431;Note=In MODY2. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 20 20 . . . ID=VAR_079432;Note=In MODY2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 36 36 . . . ID=VAR_010584;Note=In MODY2. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16965331,ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:8168652;Dbxref=dbSNP:rs762263694,PMID:16965331,PMID:17573900,PMID:8168652 P35557 UniProtKB Natural variant 40 40 . . . ID=VAR_079433;Note=In PNDM1%3B decreased stability%3B decreased glucokinase activity%3B decreased affinity for glucose. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs794727236,PMID:25015100 P35557 UniProtKB Natural variant 43 43 . . . ID=VAR_079434;Note=In PNDM1%3B decreased stability%3B decreased glucokinase activity%3B no effect on affinity for glucose. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs1486280029,PMID:25015100 P35557 UniProtKB Natural variant 43 43 . . . ID=VAR_075220;Note=In MODY2%3B uncertain significance%3B no change in glucokinase activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22611063;Dbxref=dbSNP:rs764232985,PMID:22611063 P35557 UniProtKB Natural variant 43 43 . . . ID=VAR_079435;Note=In MODY2. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs1486280029,PMID:17573900 P35557 UniProtKB Natural variant 44 44 . . . ID=VAR_079436;Note=In MODY2. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs267601516,PMID:17573900 P35557 UniProtKB Natural variant 50 50 . . . ID=VAR_079437;Note=In PNDM1%3B loss of stability%3B loss of glucokinase activity%3B decreased affinity for glucose. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=PMID:25015100 P35557 UniProtKB Natural variant 53 53 . . . ID=VAR_010585;Note=In MODY2. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 61 465 . . . ID=VAR_079438;Note=In MODY2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 61 61 . . . ID=VAR_079439;Note=In MODY2%3B decreased glucokinase activity%3B decreased affinity for glucose%3B increased affinity for ATP. Y->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:18322640;Dbxref=PMID:17573900,PMID:18322640 P35557 UniProtKB Natural variant 65 65 . . . ID=VAR_078243;Note=In HHF3%3B increased glucokinase activity based on measure of catalytic efficiency%3B increased affinity for glucose%3B loss of inhibition by GCKR%3B unchanged affinity for ATP. T->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12941786,ECO:0000269|PubMed:17082186,ECO:0000269|PubMed:28247534;Dbxref=PMID:12941786,PMID:17082186,PMID:28247534 P35557 UniProtKB Natural variant 68 68 . . . ID=VAR_075221;Note=In MODY2%3B uncertain significance%3B mildly increases glucokinase activity. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22611063;Dbxref=dbSNP:rs373418736,PMID:22611063 P35557 UniProtKB Natural variant 70 70 . . . ID=VAR_003693;Note=In MODY2%3B decreased affinity for glucose. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:8325892;Dbxref=PMID:17573900,PMID:8325892 P35557 UniProtKB Natural variant 72 72 . . . ID=VAR_079440;Note=In MODY2 and PNDM1%3B decreased stability%3B no effect on glucokinase activity%3B no effect on affinity for glucose. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs193922289,PMID:17573900,PMID:25015100 P35557 UniProtKB Natural variant 77 77 . . . ID=VAR_079441;Note=In MODY2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs2096281827,PMID:17573900 P35557 UniProtKB Natural variant 78 78 . . . ID=VAR_079442;Note=In MODY2. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 80 80 . . . ID=VAR_003694;Note=In MODY2. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 80 80 . . . ID=VAR_079443;Note=In MODY2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 80 80 . . . ID=VAR_003695;Note=In MODY2. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10694920;Dbxref=dbSNP:rs1554335761,PMID:10694920 P35557 UniProtKB Natural variant 82 82 . . . ID=VAR_079444;Note=In MODY2. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 91 91 . . . ID=VAR_078244;Note=In HHF3%3B increased glucokinase activity%3B increased affinity for glucose. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20375417,ECO:0000269|PubMed:28247534;Dbxref=PMID:20375417,PMID:28247534 P35557 UniProtKB Natural variant 99 99 . . . ID=VAR_078245;Note=In HHF3%3B increased glucokinase activity%3B increased affinity for glucose%3B increased affinity for ATP. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28247534;Dbxref=PMID:28247534 P35557 UniProtKB Natural variant 107 107 . . . ID=VAR_003696;Note=M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1464666,ECO:0000269|PubMed:1871135;Dbxref=PMID:1464666,PMID:1871135 P35557 UniProtKB Natural variant 108 108 . . . ID=VAR_010586;Note=In MODY2. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:9662401;Dbxref=dbSNP:rs193922292,PMID:17573900,PMID:9662401 P35557 UniProtKB Natural variant 110 110 . . . ID=VAR_012352;Note=In MODY2. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10588527;Dbxref=dbSNP:rs1338970607,PMID:10588527 P35557 UniProtKB Natural variant 116 116 . . . ID=VAR_079445;Note=In MODY2. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 119 119 . . . ID=VAR_012353;Note=In MODY2. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10588527;Dbxref=dbSNP:rs1176659689,PMID:10588527 P35557 UniProtKB Natural variant 129 129 . . . ID=VAR_078246;Note=In MODY2. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=PMID:16965331 P35557 UniProtKB Natural variant 131 131 . . . ID=VAR_003697;Note=In MODY2%3B decreased affinity for glucose. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8325892,ECO:0000269|PubMed:8495817;Dbxref=dbSNP:rs104894010,PMID:8325892,PMID:8495817 P35557 UniProtKB Natural variant 137 137 . . . ID=VAR_010587;Note=In MODY2. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 150 150 . . . ID=VAR_010588;Note=In MODY2. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662401;Dbxref=dbSNP:rs193922297,PMID:9662401 P35557 UniProtKB Natural variant 151 151 . . . ID=VAR_079446;Note=In PNDM1. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=PMID:25015100 P35557 UniProtKB Natural variant 152 152 . . . ID=VAR_078247;Note=In MODY2%3B uncertain significance. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=dbSNP:rs2096280050,PMID:16965331 P35557 UniProtKB Natural variant 160 160 . . . ID=VAR_079447;Note=In MODY2%3B decreased glucokinase activity%3B decreased affinity for glucose. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs1554335566,PMID:25015100 P35557 UniProtKB Natural variant 164 164 . . . ID=VAR_012350;Note=In MODY2 and PNDM1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11106831,ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs2096278847,PMID:11106831,PMID:25015100 P35557 UniProtKB Natural variant 168 168 . . . ID=VAR_079448;Note=In PNDM1%3B decreased glucokinase activity%3B decreased affinity for glucose. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=PMID:25015100 P35557 UniProtKB Natural variant 168 168 . . . ID=VAR_010589;Note=In MODY2. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 169 169 . . . ID=VAR_079449;Note=In PNDM1. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=PMID:25015100 P35557 UniProtKB Natural variant 175 175 . . . ID=VAR_003698;Note=In MODY2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8433729;Dbxref=dbSNP:rs587780344,PMID:8433729 P35557 UniProtKB Natural variant 182 182 . . . ID=VAR_079450;Note=In MODY2%3B decreased glucokinase activity%3B decreased affinity for glucose%3B increased affinity for ATP. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:18322640;Dbxref=PMID:17573900,PMID:18322640 P35557 UniProtKB Natural variant 182 182 . . . ID=VAR_003699;Note=In MODY2. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8433729;Dbxref=dbSNP:rs587780345,PMID:8433729 P35557 UniProtKB Natural variant 186 465 . . . ID=VAR_079451;Note=In MODY2 and T2D. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1360036,ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:9049484;Dbxref=PMID:1360036,PMID:17573900,PMID:9049484 P35557 UniProtKB Natural variant 187 187 . . . ID=VAR_079452;Note=In MODY2. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 188 188 . . . ID=VAR_003700;Note=In MODY2%3B decreased affinity for glucose. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=dbSNP:rs751279776,PMID:8325892 P35557 UniProtKB Natural variant 188 188 . . . ID=VAR_078248;Note=In MODY2. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=dbSNP:rs193922307,PMID:16965331 P35557 UniProtKB Natural variant 191 191 . . . ID=VAR_078249;Note=In MODY2. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16965331,ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs1085307455,PMID:16965331,PMID:17573900 P35557 UniProtKB Natural variant 200 200 . . . ID=VAR_079453;Note=In MODY2. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 202 202 . . . ID=VAR_078250;Note=In MODY2. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=PMID:16965331 P35557 UniProtKB Natural variant 202 202 . . . ID=VAR_079454;Note=In MODY2. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs193922311,PMID:17573900 P35557 UniProtKB Natural variant 203 203 . . . ID=VAR_003701;Note=In MODY2. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8433729;Dbxref=dbSNP:rs1562717053,PMID:8433729 P35557 UniProtKB Natural variant 206 206 . . . ID=VAR_079455;Note=In MODY2. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs1441649062,PMID:17573900 P35557 UniProtKB Natural variant 209 209 . . . ID=VAR_010590;Note=In MODY2. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:8168652;Dbxref=dbSNP:rs1583599303,PMID:17573900,PMID:8168652 P35557 UniProtKB Natural variant 210 210 . . . ID=VAR_012351;Note=In MODY2 and PNDM1. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11372010;Dbxref=dbSNP:rs80356654,PMID:11372010 P35557 UniProtKB Natural variant 210 210 . . . ID=VAR_010591;Note=In MODY2. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=dbSNP:rs80356654,PMID:9049484 P35557 UniProtKB Natural variant 213 213 . . . ID=VAR_010592;Note=In MODY2. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 214 214 . . . ID=VAR_079456;Note=In HHF3%3B increased glucokinase activity based on measure of catalytic efficiency%3B increased affinity for glucose%3B decreased inhibition by GCKR. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15277402,ECO:0000269|PubMed:17082186;Dbxref=dbSNP:rs104894015,PMID:15277402,PMID:17082186 P35557 UniProtKB Natural variant 217 217 . . . ID=VAR_075222;Note=In MODY2%3B benign. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22611063;Dbxref=dbSNP:rs147065275,PMID:22611063 P35557 UniProtKB Natural variant 221 221 . . . ID=VAR_003702;Note=In MODY2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10694920;Dbxref=dbSNP:rs193922317,PMID:10694920 P35557 UniProtKB Natural variant 223 223 . . . ID=VAR_078251;Note=In MODY2. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16965331,ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs1360415315,PMID:16965331,PMID:17573900 P35557 UniProtKB Natural variant 224 224 . . . ID=VAR_079457;Note=In MODY2. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 225 225 . . . ID=VAR_075223;Note=In MODY2%3B associated in cis with K-248%3B highly decreased glucokinase activity%3B loss of glucokinase activity when associated with K-248. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22611063;Dbxref=dbSNP:rs772754004,PMID:22611063 P35557 UniProtKB Natural variant 226 226 . . . ID=VAR_003703;Note=In MODY2%3B no effect on stability%3B decreased glucokinase activity%3B decreased affinity for glucose. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16965331,ECO:0000269|PubMed:25015100,ECO:0000269|PubMed:9049484;Dbxref=dbSNP:rs148311934,PMID:16965331,PMID:25015100,PMID:9049484 P35557 UniProtKB Natural variant 227 227 . . . ID=VAR_003704;Note=In MODY2. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10694920;Dbxref=PMID:10694920 P35557 UniProtKB Natural variant 227 227 . . . ID=VAR_079458;Note=In MODY2. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 228 228 . . . ID=VAR_003705;Note=In MODY2 and PNDM1. T->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11372010,ECO:0000269|PubMed:1502186,ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs80356655,PMID:11372010,PMID:1502186,PMID:17573900 P35557 UniProtKB Natural variant 231 231 . . . ID=VAR_078252;Note=In MODY2%3B uncertain significance. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=PMID:16965331 P35557 UniProtKB Natural variant 233 233 . . . ID=VAR_079459;Note=In MODY2%3B loss of glucokinase activity%3B loss of affinity for glucose%3B loss of affinity for ATP. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:18322640;Dbxref=PMID:17573900,PMID:18322640 P35557 UniProtKB Natural variant 234 465 . . . ID=VAR_079460;Note=In MODY2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 248 465 . . . ID=VAR_081975;Note=In MODY2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 248 248 . . . ID=VAR_075224;Note=In MODY2%3B associated in cis with M-225%3B highly decreased glucokinase activity%3B loss of glucokinase activity when associated with M-225. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22611063;Dbxref=dbSNP:rs759421263,PMID:22611063 P35557 UniProtKB Natural variant 252 252 . . . ID=VAR_079461;Note=In MODY2. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 255 255 . . . ID=VAR_079462;Note=In MODY2. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 256 256 . . . ID=VAR_003706;Note=In MODY2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs769268803,PMID:17573900 P35557 UniProtKB Natural variant 257 257 . . . ID=VAR_003707;Note=In MODY2%3B almost complete loss of glucokinase activity. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=dbSNP:rs1554335135,PMID:8325892 P35557 UniProtKB Natural variant 259 259 . . . ID=VAR_010593;Note=In MODY2. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662401;Dbxref=dbSNP:rs1375656631,PMID:9662401 P35557 UniProtKB Natural variant 261 261 . . . ID=VAR_010594;Note=In MODY2. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8168652;Dbxref=PMID:8168652 P35557 UniProtKB Natural variant 261 261 . . . ID=VAR_003708;Note=In MODY2 and PNDM1%3B pathogenic%3B highly decreased glucokinase activity%3B decreased affinity for glucose. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1464666,ECO:0000269|PubMed:1502186,ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:22611063,ECO:0000269|PubMed:25015100,ECO:0000269|PubMed:9049484;Dbxref=dbSNP:rs104894008,PMID:1464666,PMID:1502186,PMID:17573900,PMID:22611063,PMID:25015100,PMID:9049484 P35557 UniProtKB Natural variant 265 265 . . . ID=VAR_079463;Note=In MODY2%3B decreased glucokinase activity%3B decreased affinity for glucose%3B no effect on affinity for ATP. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:18322640;Dbxref=dbSNP:rs104894011,PMID:17573900,PMID:18322640 P35557 UniProtKB Natural variant 279 279 . . . ID=VAR_003709;Note=In MODY2. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8446612;Dbxref=dbSNP:rs104894005,PMID:8446612 P35557 UniProtKB Natural variant 298 298 . . . ID=VAR_079464;Note=In MODY2. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 299 299 . . . ID=VAR_003710;Note=In MODY2. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1303265,ECO:0000269|PubMed:9662401;Dbxref=dbSNP:rs104894009,PMID:1303265,PMID:9662401 P35557 UniProtKB Natural variant 300 300 . . . ID=VAR_003712;Note=In MODY2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8433729;Dbxref=dbSNP:rs1255911887,PMID:8433729 P35557 UniProtKB Natural variant 300 300 . . . ID=VAR_003711;Note=In MODY2. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8433729;Dbxref=PMID:8433729 P35557 UniProtKB Natural variant 308 308 . . . ID=VAR_079465;Note=In MODY2. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 309 309 . . . ID=VAR_003713;Note=In MODY2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8433729;Dbxref=PMID:8433729 P35557 UniProtKB Natural variant 315 315 . . . ID=VAR_078253;Note=In MODY2%3B uncertain significance. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=dbSNP:rs1583594350,PMID:16965331 P35557 UniProtKB Natural variant 336 336 . . . ID=VAR_010595;Note=In MODY2. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 342 342 . . . ID=VAR_066615;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21604084;Dbxref=dbSNP:rs1000236360,PMID:21604084 P35557 UniProtKB Natural variant 360 465 . . . ID=VAR_081976;Note=In MODY2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=PMID:9049484 P35557 UniProtKB Natural variant 367 367 . . . ID=VAR_010596;Note=In MODY2. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9049484;Dbxref=dbSNP:rs1057521092,PMID:9049484 P35557 UniProtKB Natural variant 377 377 . . . ID=VAR_079466;Note=In MODY2. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs193922264,PMID:17573900 P35557 UniProtKB Natural variant 378 378 . . . ID=VAR_078254;Note=In MODY2. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=dbSNP:rs104894016,PMID:16965331 P35557 UniProtKB Natural variant 379 379 . . . ID=VAR_079467;Note=In MODY2%3B decreased glucokinase activity%3B decreased affinity for glucose%3B decreased affinity for ATP. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:18322640;Dbxref=dbSNP:rs193922265,PMID:17573900,PMID:18322640 P35557 UniProtKB Natural variant 382 382 . . . ID=VAR_010597;Note=In MODY2. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662401;Dbxref=PMID:9662401 P35557 UniProtKB Natural variant 383 383 . . . ID=VAR_079468;Note=In MODY2. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs777870079,PMID:17573900 P35557 UniProtKB Natural variant 384 384 . . . ID=VAR_010598;Note=In MODY2. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662401;Dbxref=dbSNP:rs1376620210,PMID:9662401 P35557 UniProtKB Natural variant 385 385 . . . ID=VAR_012354;Note=In MODY2. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10588527;Dbxref=PMID:10588527 P35557 UniProtKB Natural variant 392 392 . . . ID=VAR_010599;Note=In MODY2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662401;Dbxref=dbSNP:rs1167124132,PMID:9662401 P35557 UniProtKB Natural variant 393 393 . . . ID=VAR_079469;Note=In PNDM1%3B decreased stability%3B increased glucokinase activity%3B no effect on affinity for glucose. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs2096271425,PMID:25015100 P35557 UniProtKB Natural variant 397 397 . . . ID=VAR_079470;Note=In PNDM1%3B decreased stability%3B increased glucokinase activity%3B no effect on affinity for glucose. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs193929375,PMID:25015100 P35557 UniProtKB Natural variant 399 465 . . . ID=VAR_079471;Note=In MODY2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 411 411 . . . ID=VAR_079472;Note=In MODY2. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=PMID:17573900 P35557 UniProtKB Natural variant 414 414 . . . ID=VAR_003714;Note=In MODY2%3B decreased affinity for glucose. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=dbSNP:rs193922272,PMID:8325892 P35557 UniProtKB Natural variant 416 416 . . . ID=VAR_079473;Note=In MODY2. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17573900;Dbxref=dbSNP:rs1583591303,PMID:17573900 P35557 UniProtKB Natural variant 420 420 . . . ID=VAR_079474;Note=In MODY2%3B no effect on glucokinase activity%3B decreased affinity for glucose%3B no effect on affinity for ATP. K->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:18322640;Dbxref=PMID:17573900,PMID:18322640 P35557 UniProtKB Natural variant 434 434 . . . ID=VAR_078255;Note=In MODY2%3B uncertain significance. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=PMID:16965331 P35557 UniProtKB Natural variant 441 441 . . . ID=VAR_079475;Note=In PNDM1%3B decreased stability%3B decreased glucokinase activity%3B no effect on affinity for glucose. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs1286804191,PMID:25015100 P35557 UniProtKB Natural variant 441 441 . . . ID=VAR_078256;Note=In MODY2%3B decreased affinity for glucose. S->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16965331,ECO:0000269|PubMed:17573900,ECO:0000269|PubMed:19884385;Dbxref=PMID:16965331,PMID:17573900,PMID:19884385 P35557 UniProtKB Natural variant 442 442 . . . ID=VAR_078257;Note=In HHF3%3B increased affinity for glucose. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19884385,ECO:0000269|PubMed:28247534;Dbxref=dbSNP:rs758737171,PMID:19884385,PMID:28247534 P35557 UniProtKB Natural variant 447 447 . . . ID=VAR_078258;Note=In MODY2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16965331;Dbxref=dbSNP:rs1131691416,PMID:16965331 P35557 UniProtKB Natural variant 449 449 . . . ID=VAR_079476;Note=In PNDM1%3B decreased stability%3B increased glucokinase activity%3B increased affinity for glucose. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25015100;Dbxref=dbSNP:rs193922282,PMID:25015100 P35557 UniProtKB Natural variant 455 455 . . . ID=VAR_003715;Note=In HHF3%3B increased glucokinase activity based on measure of catalytic efficiency%3B increased affinity for glucose%3B decreased inhibition by GCKR%3B no effect on affinity for ATP. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17082186,ECO:0000269|PubMed:9435328;Dbxref=dbSNP:rs104894012,PMID:17082186,PMID:9435328 P35557 UniProtKB Natural variant 456 456 . . . ID=VAR_079477;Note=In HHF3%3B increased glucokinase activity based on measure of catalytic efficiency%3B increased affinity for glucose%3B loss of inhibition by GCKR%3B no effect on affinity for ATP. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11916951,ECO:0000269|PubMed:17082186;Dbxref=dbSNP:rs104894014,PMID:11916951,PMID:17082186 P35557 UniProtKB Mutagenesis 64 64 . . . Note=Increased glucokinase activity based on measure of catalytic efficiency. Increased affinity for glucose. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19146401;Dbxref=PMID:19146401 P35557 UniProtKB Mutagenesis 177 177 . . . Note=Small change in glucokinase activity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=PMID:8325892 P35557 UniProtKB Mutagenesis 197 197 . . . Note=Increased glucokinase activity based on measure of catalytic efficiency. Increased affinity for glucose. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19146401;Dbxref=PMID:19146401 P35557 UniProtKB Mutagenesis 211 211 . . . Note=Increased glucokinase activity based on measure of catalytic efficiency. Increased affinity for glucose. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19146401;Dbxref=PMID:19146401 P35557 UniProtKB Mutagenesis 214 214 . . . Note=Increased glucokinase activity based on measure of catalytic efficiency. Increased affinity for glucose. No effect on affinity for ATP. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17082186;Dbxref=PMID:17082186 P35557 UniProtKB Mutagenesis 215 215 . . . Note=Increased glucokinase activity based on measure of catalytic efficiency. Increased affinity for glucose. Loss of inhibition by GCKR. No effect on affinity for ATP. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17082186;Dbxref=PMID:17082186 P35557 UniProtKB Mutagenesis 256 256 . . . Note=Inactive enzyme with no glucokinase activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=PMID:8325892 P35557 UniProtKB Mutagenesis 414 414 . . . Note=Small change in glucokinase activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325892;Dbxref=PMID:8325892 P35557 UniProtKB Mutagenesis 453 453 . . . Note=Increased glucokinase activity based on measure of catalytic efficiency. Increased affinity for glucose. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19146401;Dbxref=PMID:19146401 P35557 UniProtKB Helix 12 20 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 21 23 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 27 45 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Turn 47 52 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 58 65 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Turn 66 68 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4LC9 P35557 UniProtKB Beta strand 72 92 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 95 97 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3H1V P35557 UniProtKB Beta strand 99 109 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 112 115 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 116 118 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 119 136 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 140 142 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 145 150 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 154 158 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 161 164 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 181 192 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 198 203 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 205 214 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 220 237 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 238 240 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 248 254 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 257 259 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Turn 260 263 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 264 266 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4MLH P35557 UniProtKB Helix 267 269 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 272 280 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 281 283 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 288 291 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 295 311 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 316 318 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Turn 322 325 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 332 339 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 340 342 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3QIC P35557 UniProtKB Beta strand 343 345 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4ISE P35557 UniProtKB Helix 346 354 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 361 396 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 400 409 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 411 415 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 416 418 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3VEV P35557 UniProtKB Helix 419 430 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Beta strand 434 440 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Helix 444 456 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3F9M P35557 UniProtKB Turn 457 459 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3H1V