##gff-version 3 P14867 UniProtKB Signal peptide 1 27 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P14867 UniProtKB Chain 28 456 . . . ID=PRO_0000000428;Note=Gamma-aminobutyric acid receptor subunit alpha-1 P14867 UniProtKB Topological domain 28 251 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Transmembrane 252 273 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Transmembrane 279 300 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Transmembrane 313 334 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Topological domain 335 421 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Transmembrane 422 443 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Binding site 273 273 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30266951;Dbxref=PMID:30266951 P14867 UniProtKB Glycosylation 38 38 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P14867 UniProtKB Glycosylation 138 138 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P14867 UniProtKB Disulfide bond 166 180 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P14867 UniProtKB Natural variant 112 112 . . . ID=VAR_071809;Note=In DEE19. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24623842;Dbxref=dbSNP:rs587777308,PMID:24623842 P14867 UniProtKB Natural variant 146 146 . . . ID=VAR_078222;Note=In DEE19. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=PMID:27864847 P14867 UniProtKB Natural variant 219 219 . . . ID=VAR_071810;Note=In EIG13%3B the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane%3B causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21714819;Dbxref=dbSNP:rs587777364,PMID:21714819 P14867 UniProtKB Natural variant 251 251 . . . ID=VAR_071811;Note=In DEE19. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24623842;Dbxref=dbSNP:rs587777307,PMID:24623842 P14867 UniProtKB Natural variant 306 306 . . . ID=VAR_071812;Note=In DEE19. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24623842;Dbxref=dbSNP:rs587777309,PMID:24623842 P14867 UniProtKB Natural variant 322 322 . . . ID=VAR_013642;Note=In EJM5. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11992121;Dbxref=dbSNP:rs121434579,PMID:11992121 P14867 UniProtKB Mutagenesis 269 269 . . . Note=Reduced potentiation and activation by the agonist alphaxalone. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30266951;Dbxref=PMID:30266951 P14867 UniProtKB Mutagenesis 273 273 . . . Note=Completely abolishes potentiation and activation by the agonist alphaxalone. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30266951;Dbxref=PMID:30266951 P14867 UniProtKB Mutagenesis 333 333 . . . Note=Reduced potentiation and activation by the agonist alphaxalone. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30266951;Dbxref=PMID:30266951 P14867 UniProtKB Sequence conflict 122 122 . . . Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Sequence conflict 128 140 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Sequence conflict 204 204 . . . Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Sequence conflict 315 315 . . . Note=W->WDW;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Sequence conflict 362 365 . . . Note=IKKN->FPNS;Ontology_term=ECO:0000305;evidence=ECO:0000305 P14867 UniProtKB Helix 39 49 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Turn 50 52 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:8SGO P14867 UniProtKB Turn 59 63 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 66 81 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Turn 82 85 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 86 98 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 100 102 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 109 113 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 117 119 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 126 128 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 131 133 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 139 141 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 144 149 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 152 165 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Turn 171 174 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 177 188 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Turn 191 193 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 194 200 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 202 204 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 205 208 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 216 232 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 235 248 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 251 256 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 258 270 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 271 273 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 279 301 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Helix 312 336 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Turn 337 339 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T P14867 UniProtKB Beta strand 346 348 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6I53 P14867 UniProtKB Helix 419 444 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6X3T