##gff-version 3 P11166 UniProtKB Chain 1 492 . . . ID=PRO_0000050338;Note=Solute carrier family 2%2C facilitated glucose transporter member 1 P11166 UniProtKB Topological domain 1 11 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 12 33 . . . Note=Helical%3B Name%3D1 P11166 UniProtKB Topological domain 34 66 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 67 87 . . . Note=Helical%3B Name%3D2 P11166 UniProtKB Topological domain 88 90 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 91 112 . . . Note=Helical%3B Name%3D3 P11166 UniProtKB Topological domain 113 120 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 121 144 . . . Note=Helical%3B Name%3D4 P11166 UniProtKB Topological domain 145 155 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 156 176 . . . Note=Helical%3B Name%3D5 P11166 UniProtKB Topological domain 177 185 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 186 206 . . . Note=Helical%3B Name%3D6 P11166 UniProtKB Topological domain 207 271 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 272 293 . . . Note=Helical%3B Name%3D7 P11166 UniProtKB Topological domain 294 306 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 307 328 . . . Note=Helical%3B Name%3D8 P11166 UniProtKB Topological domain 329 334 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 335 355 . . . Note=Helical%3B Name%3D9 P11166 UniProtKB Topological domain 356 365 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 366 388 . . . Note=Helical%3B Name%3D10 P11166 UniProtKB Topological domain 389 401 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 402 422 . . . Note=Helical%3B Name%3D11 P11166 UniProtKB Topological domain 423 429 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Transmembrane 430 450 . . . Note=Helical%3B Name%3D12 P11166 UniProtKB Topological domain 451 492 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Region 468 492 . . . Note=Disordered;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30197081;Dbxref=PMID:30197081 P11166 UniProtKB Binding site 137 137 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:27078104,ECO:0007744|PDB:5EQI;Dbxref=PMID:27078104 P11166 UniProtKB Binding site 282 283 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Binding site 282 282 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:27078104,ECO:0007744|PDB:5EQI;Dbxref=PMID:27078104 P11166 UniProtKB Binding site 288 288 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:24847886,ECO:0007744|PDB:4PYP;Dbxref=PMID:24847886 P11166 UniProtKB Binding site 317 317 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:24847886,ECO:0007744|PDB:4PYP;Dbxref=PMID:24847886 P11166 UniProtKB Binding site 380 380 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:24847886,ECO:0007744|PDB:4PYP;Dbxref=PMID:24847886 P11166 UniProtKB Binding site 388 388 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:27078104,ECO:0007744|PDB:5EQI;Dbxref=PMID:27078104 P11166 UniProtKB Binding site 411 411 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27078104;Dbxref=PMID:27078104 P11166 UniProtKB Site 411 411 . . . Note=Not glycosylated;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3839598;Dbxref=PMID:3839598 P11166 UniProtKB Modified residue 1 1 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 P11166 UniProtKB Modified residue 226 226 . . . Note=Phosphoserine%3B by PKC/PRKCB;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25982116;Dbxref=PMID:25982116 P11166 UniProtKB Modified residue 465 465 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P11166 UniProtKB Modified residue 478 478 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 P11166 UniProtKB Modified residue 490 490 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:21406692,PMID:23186163,PMID:24275569 P11166 UniProtKB Glycosylation 45 45 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19349973,ECO:0000269|PubMed:3839598;Dbxref=PMID:19349973,PMID:3839598 P11166 UniProtKB Natural variant 34 34 . . . ID=VAR_054755;Note=In GLUT1DS2. N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14605501;Dbxref=dbSNP:rs80359812,PMID:14605501 P11166 UniProtKB Natural variant 34 34 . . . ID=VAR_054756;Note=In GLUT1DS1%3B 55%25 of wild-type glucose uptake activity. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15622525;Dbxref=dbSNP:rs80359812,PMID:15622525 P11166 UniProtKB Natural variant 34 34 . . . ID=VAR_065206;Note=In GLUT1DS1. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=PMID:20129935 P11166 UniProtKB Natural variant 51 51 . . . ID=VAR_076226;Note=In EIG12%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=dbSNP:rs201815571,PMID:23280796 P11166 UniProtKB Natural variant 60 60 . . . ID=VAR_076227;Note=In EIG12%3B uncertain significance%3B decreased glucose transport. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=dbSNP:rs142986731,PMID:23280796 P11166 UniProtKB Natural variant 66 66 . . . ID=VAR_013283;Note=In GLUT1DS1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10980529;Dbxref=dbSNP:rs80359813,PMID:10980529 P11166 UniProtKB Natural variant 77 77 . . . ID=VAR_076228;Note=In EIG12%3B decreased glucose transport. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=dbSNP:rs1187210267,PMID:23280796 P11166 UniProtKB Natural variant 91 91 . . . ID=VAR_013182;Note=In GLUT1DS1%3B significantly decreases the transport of 3-O-methyl-D-glucose. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11136715,ECO:0000269|PubMed:20574033;Dbxref=dbSNP:rs80359814,PMID:11136715,PMID:20574033 P11166 UniProtKB Natural variant 92 92 . . . ID=VAR_069077;Note=In GLUT1DS2. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19630075;Dbxref=dbSNP:rs202060209,PMID:19630075 P11166 UniProtKB Natural variant 93 93 . . . ID=VAR_065207;Note=In GLUT1DS2. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs267607061,PMID:20129935 P11166 UniProtKB Natural variant 95 95 . . . ID=VAR_065208;Note=In GLUT1DS2. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20574033;Dbxref=dbSNP:rs267607060,PMID:20574033 P11166 UniProtKB Natural variant 96 96 . . . ID=VAR_065209;Note=In GLUT1DS1. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs753161833,PMID:20129935 P11166 UniProtKB Natural variant 126 126 . . . ID=VAR_054757;Note=In GLUT1DS1%2C GLUT1DS2 and DYT9%3B reduced transporter activity. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12325075,ECO:0000269|PubMed:19798636,ECO:0000269|PubMed:21832227;Dbxref=dbSNP:rs80359818,PMID:12325075,PMID:19798636,PMID:21832227 P11166 UniProtKB Natural variant 126 126 . . . ID=VAR_013183;Note=In GLUT1DS1%3B significantly decreases the transport of 3-O-methyl-D-glucose and dehydroascorbic acid%3B 57%25 of wild-type glucose uptake activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11603379,ECO:0000269|PubMed:12325075,ECO:0000269|PubMed:15622525,ECO:0000269|PubMed:20574033;Dbxref=dbSNP:rs80359816,PMID:11603379,PMID:12325075,PMID:15622525,PMID:20574033 P11166 UniProtKB Natural variant 126 126 . . . ID=VAR_013184;Note=In GLUT1DS1. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10980529;Dbxref=dbSNP:rs80359816,PMID:10980529 P11166 UniProtKB Natural variant 130 130 . . . ID=VAR_054758;Note=In GLUT1DS1%3B 75%25 of wild-type glucose uptake activity. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15622525,ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs80359819,PMID:15622525,PMID:20129935 P11166 UniProtKB Natural variant 146 146 . . . ID=VAR_013284;Note=In GLUT1DS1. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10980529,ECO:0000269|PubMed:12325075;Dbxref=dbSNP:rs80359820,PMID:10980529,PMID:12325075 P11166 UniProtKB Natural variant 149 149 . . . ID=VAR_076229;Note=In EIG12%3B uncertain significance. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=PMID:23280796 P11166 UniProtKB Natural variant 153 153 . . . ID=VAR_054759;Note=In GLUT1DS1%3B 44%25 of wild-type glucose uptake activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12325075,ECO:0000269|PubMed:15622525;Dbxref=PMID:12325075,PMID:15622525 P11166 UniProtKB Natural variant 153 153 . . . ID=VAR_065210;Note=In GLUT1DS2. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs794727642,PMID:20129935 P11166 UniProtKB Natural variant 155 155 . . . ID=VAR_065211;Note=In GLUT1DS1. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=PMID:20129935 P11166 UniProtKB Natural variant 165 165 . . . ID=VAR_065212;Note=In GLUT1DS2. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20621801;Dbxref=dbSNP:rs1057520545,PMID:20621801 P11166 UniProtKB Natural variant 169 169 . . . ID=VAR_054760;Note=In GLUT1DS1%3B 48%25 of wild-type glucose uptake activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15622525;Dbxref=dbSNP:rs80359832,PMID:15622525 P11166 UniProtKB Natural variant 212 212 . . . ID=VAR_065213;Note=In GLUT1DS1 and DYT9. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20129935,ECO:0000269|PubMed:21832227;Dbxref=dbSNP:rs387907312,PMID:20129935,PMID:21832227 P11166 UniProtKB Natural variant 212 212 . . . ID=VAR_065214;Note=In GLUT1DS1. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs886039517,PMID:20129935 P11166 UniProtKB Natural variant 218 218 . . . ID=VAR_076230;Note=In EIG12%3B decreased glucose transport. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=PMID:23280796 P11166 UniProtKB Natural variant 223 223 . . . ID=VAR_065215;Note=In EIG12%3B mild phenotype%3B reduced transporter activity%3B impaired phosphorylation by PKC. R->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19798636,ECO:0000269|PubMed:20574033,ECO:0000269|PubMed:25982116;Dbxref=dbSNP:rs397514564,PMID:19798636,PMID:20574033,PMID:25982116 P11166 UniProtKB Natural variant 223 223 . . . ID=VAR_076231;Note=In EIG12%3B uncertain significance%3B no effect on glucose transport%3B impaired phosphorylation by PKC. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23280796,ECO:0000269|PubMed:25982116;Dbxref=dbSNP:rs397514564,PMID:23280796,PMID:25982116 P11166 UniProtKB Natural variant 223 223 . . . ID=VAR_065216;Note=In GLUT1DS1%3B impaired phosphorylation by PKC. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20129935,ECO:0000269|PubMed:25982116;Dbxref=dbSNP:rs796053248,PMID:20129935,PMID:25982116 P11166 UniProtKB Natural variant 232 232 . . . ID=VAR_069078;Note=In EIG12%3B the mutant protein is expressed at the cell surface but has mildly decreased glucose uptake (70%25) compared to wild-type. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22282645;Dbxref=dbSNP:rs387907313,PMID:22282645 P11166 UniProtKB Natural variant 243 243 . . . ID=VAR_076232;Note=In EIG12%3B decreased glucose transport. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=PMID:23280796 P11166 UniProtKB Natural variant 256 256 . . . ID=VAR_013185;Note=In GLUT1DS1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10980529;Dbxref=dbSNP:rs121909738,PMID:10980529 P11166 UniProtKB Natural variant 275 275 . . . ID=VAR_054761;Note=In GLUT1DS2%3B the mutation decreases glucose transport but does not affect cation permeability. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18451999;Dbxref=dbSNP:rs121909740,PMID:18451999 P11166 UniProtKB Natural variant 282 285 . . . ID=VAR_054762;Note=In GLUT1DS2%3B accompanied by hemolytic anemia and altered erythrocyte ion concentrations%3B the mutation decreases glucose transport and causes a cation leak that alteres intracellular concentrations of sodium potassium and calcium. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18451999;Dbxref=PMID:18451999 P11166 UniProtKB Natural variant 286 286 . . . ID=VAR_076233;Note=In SDCHCN%3B no effect on protein abundance%3B no effect on localization to the plasma membrane%3B loss of D-glucose transporter activity%3B increased cation leakage. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21791420,ECO:0000269|PubMed:22492876;Dbxref=dbSNP:rs864309514,PMID:21791420,PMID:22492876 P11166 UniProtKB Natural variant 292 292 . . . ID=VAR_069079;Note=In GLUT1DS1. Y->YY;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19901175;Dbxref=PMID:19901175 P11166 UniProtKB Natural variant 294 294 . . . ID=VAR_065784;Note=In GLUT1DS2. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20830593;Dbxref=PMID:20830593 P11166 UniProtKB Natural variant 295 295 . . . ID=VAR_054763;Note=In GLUT1DS1%3B 75%25 of wild-type glucose uptake activity. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15622525,ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs80359823,PMID:15622525,PMID:20129935 P11166 UniProtKB Natural variant 303 303 . . . ID=VAR_065217;Note=Found in a patient with GLUT1 deficiency syndrome. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs1205631854,PMID:20129935 P11166 UniProtKB Natural variant 310 310 . . . ID=VAR_013285;Note=In GLUT1DS1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10227690;Dbxref=dbSNP:rs80359824,PMID:10227690 P11166 UniProtKB Natural variant 314 314 . . . ID=VAR_054764;Note=In GLUT1DS2%3B the mutation decreases glucose transport but does not affect cation permeability. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18451999,ECO:0000269|PubMed:20574033;Dbxref=dbSNP:rs121909739,PMID:18451999,PMID:20574033 P11166 UniProtKB Natural variant 317 317 . . . ID=VAR_065218;Note=In GLUT1DS2. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21204808;Dbxref=PMID:21204808 P11166 UniProtKB Natural variant 324 324 . . . ID=VAR_065219;Note=In GLUT1DS2%3B mild phenotype%3B reduced transporter activity. S->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19798636,ECO:0000269|PubMed:20574033;Dbxref=dbSNP:rs796053253,PMID:19798636,PMID:20574033 P11166 UniProtKB Natural variant 329 329 . . . ID=VAR_065220;Note=In GLUT1DS1%3B stabilizes the inward-open conformation. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=PMID:20129935 P11166 UniProtKB Natural variant 333 333 . . . ID=VAR_065221;Note=In GLUT1DS1 and GLUT1DS2. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19630075,ECO:0000269|PubMed:20129935;Dbxref=dbSNP:rs1553155986,PMID:19630075,PMID:20129935 P11166 UniProtKB Natural variant 333 333 . . . ID=VAR_013286;Note=In GLUT1DS1%3B 43%25 of wild-type glucose uptake activity. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10980529,ECO:0000269|PubMed:12325075,ECO:0000269|PubMed:15622525;Dbxref=dbSNP:rs80359825,PMID:10980529,PMID:12325075,PMID:15622525 P11166 UniProtKB Natural variant 382 382 . . . ID=VAR_065222;Note=In GLUT1DS1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=PMID:20129935 P11166 UniProtKB Natural variant 405 405 . . . ID=VAR_065223;Note=In GLUT1DS1. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129935;Dbxref=PMID:20129935 P11166 UniProtKB Natural variant 411 411 . . . ID=VAR_076234;Note=In EIG12%3B decreased glucose transport. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=dbSNP:rs398123069,PMID:23280796 P11166 UniProtKB Natural variant 435 435 . . . ID=VAR_076235;Note=In SDCHCN%3B no effect on protein abundance%3B no effect on localization to the plasma membrane%3B loss of D-glucose transporter activity%3B increased cation leakage. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21791420,ECO:0000269|PubMed:22492876;Dbxref=PMID:21791420,PMID:22492876 P11166 UniProtKB Natural variant 458 458 . . . ID=VAR_076236;Note=In EIG12%3B decreased glucose transport. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23280796;Dbxref=dbSNP:rs13306758,PMID:23280796 P11166 UniProtKB Natural variant 468 468 . . . ID=VAR_069080;Note=In GLUT1DS1. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20221955;Dbxref=dbSNP:rs267607059,PMID:20221955 P11166 UniProtKB Natural variant 485 485 . . . ID=VAR_065224;Note=In GLUT1DS1%3B creates a dileucine internalization motif that promotes recruitment of clathrin and mislocalization of the protein to endocytic compartments. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20129935,ECO:0000269|PubMed:30197081;Dbxref=PMID:20129935,PMID:30197081 P11166 UniProtKB Mutagenesis 45 45 . . . Note=Loss of glycosylation site. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24847886;Dbxref=PMID:24847886 P11166 UniProtKB Mutagenesis 192 192 . . . Note=Strongly decreases glucose transport. I->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18245775;Dbxref=PMID:18245775 P11166 UniProtKB Mutagenesis 204 204 . . . Note=Abolishes glucose transport. L->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18245775;Dbxref=PMID:18245775 P11166 UniProtKB Mutagenesis 205 205 . . . Note=Abolishes glucose transport. P->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18245775;Dbxref=PMID:18245775 P11166 UniProtKB Mutagenesis 226 226 . . . Note=Abolishes phosphorylation by PKA%2C leading to impaired response to TPA. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25982116;Dbxref=PMID:25982116 P11166 UniProtKB Mutagenesis 340 340 . . . Note=Strongly decreases glucose transport. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19449892;Dbxref=PMID:19449892 P11166 UniProtKB Sequence conflict 25 26 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P11166 UniProtKB Sequence conflict 95 95 . . . Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 P11166 UniProtKB Sequence conflict 152 152 . . . Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 P11166 UniProtKB Sequence conflict 363 363 . . . Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P11166 UniProtKB Helix 11 31 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Beta strand 32 34 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 37 52 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 58 81 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 83 90 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 92 111 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 113 116 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 119 147 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 150 152 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 153 157 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 159 173 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 177 180 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 183 185 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 186 191 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 194 203 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 204 206 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 211 215 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 216 218 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5EQG P11166 UniProtKB Helix 221 231 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 238 252 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 259 264 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 266 283 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 284 286 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 287 300 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 306 327 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 328 330 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 333 356 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 357 360 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 364 381 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 382 385 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 386 394 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Turn 397 399 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 400 429 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 430 432 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA P11166 UniProtKB Helix 433 450 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6THA