##gff-version 3 P28472 UniProtKB Signal peptide 1 25 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P28472 UniProtKB Chain 26 473 . . . ID=PRO_0000000462;Note=Gamma-aminobutyric acid receptor subunit beta-3 P28472 UniProtKB Topological domain 26 245 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Transmembrane 246 267 . . . Note=Helical P28472 UniProtKB Topological domain 268 270 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Transmembrane 271 293 . . . Note=Helical P28472 UniProtKB Topological domain 294 304 . . . Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Transmembrane 305 327 . . . Note=Helical P28472 UniProtKB Topological domain 328 450 . . . Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Transmembrane 451 472 . . . Note=Helical P28472 UniProtKB Binding site 120 122 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Binding site 180 182 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:24909990,ECO:0007744|PDB:4COF;Dbxref=PMID:24909990 P28472 UniProtKB Binding site 225 225 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Glycosylation 33 33 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Glycosylation 105 105 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Glycosylation 174 174 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Disulfide bond 161 175 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24909990;Dbxref=PMID:24909990 P28472 UniProtKB Alternative sequence 1 85 . . . ID=VSP_046676;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P28472 UniProtKB Alternative sequence 1 26 . . . ID=VSP_000088;Note=In isoform 2. MWGLAGGRLFGIFSAPVLVAVVCCAQ->MCSGLLELLLPIWLSWTLGTRGSEPR;Ontology_term=ECO:0000305;evidence=ECO:0000305 P28472 UniProtKB Alternative sequence 3 80 . . . ID=VSP_046126;Note=In isoform 3. GLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNM->ATYQTEE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P28472 UniProtKB Natural variant 32 32 . . . ID=VAR_047957;Note=In ECA5%3B the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18514161,ECO:0000269|PubMed:22303015;Dbxref=dbSNP:rs71651682,PMID:18514161,PMID:22303015 P28472 UniProtKB Natural variant 120 120 . . . ID=VAR_077076;Note=In DEE43%3B no effect on localization to the plasma membrane%3B decreased GABA-gated chloride ion channel activity%3B decreased single channel open probability. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23934111,ECO:0000269|PubMed:26950270,ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037938,PMID:23934111,PMID:26950270,PMID:27476654 P28472 UniProtKB Natural variant 124 124 . . . ID=VAR_078223;Note=In DEE43. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519550,PMID:27864847 P28472 UniProtKB Natural variant 138 138 . . . ID=VAR_078619;Note=In DEE43. N->NH;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 P28472 UniProtKB Natural variant 157 157 . . . ID=VAR_077077;Note=In DEE43%3B uncertain significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=PMID:27476654 P28472 UniProtKB Natural variant 173 173 . . . ID=VAR_047958;Note=Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17850679,PMID:15489334 P28472 UniProtKB Natural variant 182 182 . . . ID=VAR_077078;Note=In DEE43. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037939,PMID:27476654 P28472 UniProtKB Natural variant 217 217 . . . ID=VAR_047959;Note=Found in a subject suffering from insomnia%3B functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2SGABA(A) receptors%3B current deactivation is faster in the mutated receptors. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12189488;Dbxref=dbSNP:rs121913125,PMID:12189488 P28472 UniProtKB Natural variant 232 232 . . . ID=VAR_079429;Note=Found in patients with Dravet syndrome%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28544625;Dbxref=dbSNP:rs797045045,PMID:28544625 P28472 UniProtKB Natural variant 249 249 . . . ID=VAR_077079;Note=In DEE43. Q->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037940,PMID:27476654 P28472 UniProtKB Natural variant 254 254 . . . ID=VAR_078224;Note=In DEE43. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519549,PMID:27864847 P28472 UniProtKB Natural variant 256 256 . . . ID=VAR_077080;Note=In DEE43. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs1890228169,PMID:27476654 P28472 UniProtKB Natural variant 287 287 . . . ID=VAR_078719;Note=In DEE43. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267 P28472 UniProtKB Natural variant 293 293 . . . ID=VAR_077081;Note=In DEE43%3B uncertain significance. L->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=PMID:27476654 P28472 UniProtKB Natural variant 305 305 . . . ID=VAR_077082;Note=In DEE43. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037941,PMID:27476654 P28472 UniProtKB Sequence conflict 97 97 . . . Note=L->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P28472 UniProtKB Sequence conflict 193 193 . . . Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P28472 UniProtKB Helix 35 45 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Turn 54 57 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 61 76 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Turn 77 80 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 81 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 95 97 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 106 108 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7QN5 P28472 UniProtKB Helix 110 115 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 121 123 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 126 131 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 134 136 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 138 143 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 147 160 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Turn 166 169 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 172 183 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Turn 186 188 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 189 193 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 196 198 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 199 201 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 203 205 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7QN5 P28472 UniProtKB Beta strand 209 224 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Beta strand 229 241 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 244 249 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 251 260 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 261 266 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 272 295 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Helix 305 330 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6QFA P28472 UniProtKB Turn 335 337 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7QNE P28472 UniProtKB Helix 448 471 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7QN5 P28472 UniProtKB Natural variant 11 11 . . . ID=VAR_082790;Note=In ECA5%2C the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18514161;Dbxref=dbSNP:rs25409,PMID:18514161 P28472 UniProtKB Natural variant 15 15 . . . ID=VAR_082791;Note=In ECA5%2C the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18514161;Dbxref=dbSNP:rs121913126,PMID:18514161