##gff-version 3 Q9Y6J6 UniProtKB Chain 1 123 . . . ID=PRO_0000144285;Note=Potassium voltage-gated channel subfamily E member 2 Q9Y6J6 UniProtKB Transmembrane 49 69 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y6J6 UniProtKB Topological domain 70 123 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y6J6 UniProtKB Glycosylation 6 6 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y6J6 UniProtKB Glycosylation 29 29 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9Y6J6 UniProtKB Natural variant 8 8 . . . ID=VAR_008375;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10219239,ECO:0000269|PubMed:16922724;Dbxref=dbSNP:rs2234916,PMID:10219239,PMID:16922724 Q9Y6J6 UniProtKB Natural variant 8 8 . . . ID=VAR_037794;Note=T->I;Dbxref=dbSNP:rs35759083 Q9Y6J6 UniProtKB Natural variant 9 9 . . . ID=VAR_008376;Note=Risk factor for drug-induced arrhythmia%3B impedes activation and increases sensitivity to macrolide antibiotics%3B may lower current in KCNQ1/KCNE2 channel. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10219239;Dbxref=dbSNP:rs16991652,PMID:10219239 Q9Y6J6 UniProtKB Natural variant 14 14 . . . ID=VAR_074921;Note=In LQT6%3B uncertain significance. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs142153692,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 20 20 . . . ID=VAR_074922;Note=In LQT6%3B uncertain significance. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs199473363,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 27 27 . . . ID=VAR_037795;Note=In ATFB4%3B gain-of-function mutation associated with the initiation and/or maintenance of AF. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15368194;Dbxref=dbSNP:rs74315449,PMID:15368194 Q9Y6J6 UniProtKB Natural variant 27 27 . . . ID=VAR_074923;Note=In LQT6%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs148968498,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 54 54 . . . ID=VAR_008377;Note=In LQT6%3B forms I(KR) channels that deactivate twice as fast as wild type. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10219239,ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs74315447,PMID:10219239,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 57 57 . . . ID=VAR_008378;Note=In LQT6%3B may affect KCNQ1/KCNE2 channel. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10219239,ECO:0000269|PubMed:16922724,ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs74315448,PMID:10219239,PMID:16922724,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 60 60 . . . ID=VAR_029334;Note=In LQT6%3B uncertain significance. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16922724;Dbxref=dbSNP:rs16991654,PMID:16922724 Q9Y6J6 UniProtKB Natural variant 65 65 . . . ID=VAR_074924;Note=In LQT6%3B uncertain significance. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs199473364,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 65 65 . . . ID=VAR_015063;Note=In LQT6. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12185453;Dbxref=dbSNP:rs199473364,PMID:12185453 Q9Y6J6 UniProtKB Natural variant 66 66 . . . ID=VAR_022052;Note=A->V;Dbxref=dbSNP:rs16991656 Q9Y6J6 UniProtKB Natural variant 77 77 . . . ID=VAR_074925;Note=In LQT6%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs199473365,PMID:19716085 Q9Y6J6 UniProtKB Natural variant 77 77 . . . ID=VAR_035386;Note=In LQT6. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16922724;Dbxref=dbSNP:rs141423405,PMID:16922724 Q9Y6J6 UniProtKB Natural variant 94 94 . . . ID=VAR_074926;Note=In LQT6%3B uncertain significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716085;Dbxref=dbSNP:rs74424227,PMID:19716085 Q9Y6J6 UniProtKB Mutagenesis 75 75 . . . Note=Increases tail current in KCNH2/KCNE2 channel. K->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11874988;Dbxref=PMID:11874988 Q9Y6J6 UniProtKB Helix 3 38 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M0Q Q9Y6J6 UniProtKB Helix 46 74 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M0Q Q9Y6J6 UniProtKB Helix 88 114 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2M0Q