##gff-version 3 P47869 UniProtKB Signal peptide 1 28 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P47869 UniProtKB Chain 29 451 . . . ID=PRO_0000000433;Note=Gamma-aminobutyric acid receptor subunit alpha-2 P47869 UniProtKB Topological domain 29 251 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Transmembrane 252 273 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Transmembrane 279 300 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Transmembrane 313 334 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Topological domain 335 419 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Transmembrane 420 441 . . . Note=Helical;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Glycosylation 38 38 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P47869 UniProtKB Glycosylation 138 138 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P47869 UniProtKB Disulfide bond 166 180 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P47869 UniProtKB Alternative sequence 1 85 . . . ID=VSP_054277;Note=In isoform 2. MKTKLNIYNMQFLLFVFLVWDPARLVLANIQEDEAKNNITIFTRILDRLLDGYDNRLRPGLGDSITEVFTNIYVTSFGPVSDTDM->MRLKITLPSLREFLTDFWMVTIIGLDQDWE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P47869 UniProtKB Alternative sequence 353 353 . . . ID=VSP_054278;Note=In isoform 2. K->KSPSIKAEGITLTYNSVKAILQGAKLIWSKYIAFSWPSLFQEKTLEYLEKWMDCLTFKQSS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P47869 UniProtKB Natural variant 263 263 . . . ID=VAR_083186;Note=In DEE78%3B impaired GABA-gated chloride ion channel activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31032849;Dbxref=PMID:31032849 P47869 UniProtKB Natural variant 284 284 . . . ID=VAR_083187;Note=In DEE78%3B impaired GABA-gated chloride ion channel activity. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31032849;Dbxref=PMID:31032849 P47869 UniProtKB Natural variant 291 291 . . . ID=VAR_083188;Note=In DEE78%3B impaired GABA-gated chloride ion channel activity. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31032849;Dbxref=PMID:31032849 P47869 UniProtKB Natural variant 292 292 . . . ID=VAR_083189;Note=In DEE78%3B impaired GABA-gated chloride ion channel activity. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29961870;Dbxref=PMID:29961870 P47869 UniProtKB Natural variant 325 325 . . . ID=VAR_083190;Note=In DEE78%3B impaired GABA-gated chloride ion channel activity. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31032849;Dbxref=PMID:31032849 P47869 UniProtKB Natural variant 335 335 . . . ID=VAR_083191;Note=In DEE78%3B uncertain significance. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29422393;Dbxref=PMID:29422393 P47869 UniProtKB Natural variant 377 377 . . . ID=VAR_083192;Note=Found in a patient with epilepsy%3B uncertain significance. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29961870;Dbxref=PMID:29961870 P47869 UniProtKB Sequence conflict 10 11 . . . Note=MQ->IE;Ontology_term=ECO:0000305;evidence=ECO:0000305 P47869 UniProtKB Sequence conflict 343 343 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305