##gff-version 3 O95180 UniProtKB Chain 1 2353 . . . ID=PRO_0000053954;Note=Voltage-dependent T-type calcium channel subunit alpha-1H O95180 UniProtKB Topological domain 1 100 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 101 119 . . . Note=Helical%3B Name%3DS1 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 120 141 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 142 160 . . . Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 161 169 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 170 184 . . . Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 185 193 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 194 212 . . . Note=Helical%3B Name%3DS4 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 213 232 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 233 253 . . . Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 254 394 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 395 419 . . . Note=Helical%3B Name%3DS6 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 420 793 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 794 814 . . . Note=Helical%3B Name%3DS1 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 815 827 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 828 849 . . . Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 850 855 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 856 874 . . . Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 875 882 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 883 906 . . . Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 907 917 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 918 938 . . . Note=Helical%3B Name%3DS5 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 939 990 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 991 1015 . . . Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1016 1290 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1291 1313 . . . Note=Helical%3B Name%3DS1 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1314 1331 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1332 1352 . . . Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1353 1362 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1363 1382 . . . Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1383 1396 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1397 1418 . . . Note=Helical%3B Name%3DS4 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1419 1428 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1429 1452 . . . Note=Helical%3B Name%3DS5 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1453 1529 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1530 1555 . . . Note=Helical%3B Name%3DS6 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1556 1616 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1617 1637 . . . Note=Helical%3B Name%3DS1 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1638 1651 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1652 1673 . . . Note=Helical%3B Name%3DS2 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1674 1680 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1681 1699 . . . Note=Helical%3B Name%3DS3 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1700 1713 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1714 1737 . . . Note=Helical%3B Name%3DS4 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1738 1751 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1752 1772 . . . Note=Helical%3B Name%3DS5 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1773 1835 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Transmembrane 1836 1863 . . . Note=Helical%3B Name%3DS6 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Topological domain 1864 2353 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Repeat 87 422 . . . Note=I O95180 UniProtKB Repeat 779 1018 . . . Note=II O95180 UniProtKB Repeat 1281 1558 . . . Note=III O95180 UniProtKB Repeat 1602 1863 . . . Note=IV O95180 UniProtKB Region 1 64 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 490 571 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 621 646 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 708 772 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 1083 1217 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 1885 1911 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 1989 2009 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 2021 2255 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Region 2269 2353 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Compositional bias 503 534 . . . Note=Basic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Compositional bias 728 745 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Compositional bias 1156 1184 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Compositional bias 2021 2040 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Compositional bias 2049 2063 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O95180 UniProtKB Binding site 140 140 . . . . O95180 UniProtKB Binding site 189 189 . . . . O95180 UniProtKB Binding site 191 191 . . . . O95180 UniProtKB Site 378 378 . . . Note=Calcium ion selectivity and permeability;Ontology_term=ECO:0000250;evidence=ECO:0000250 O95180 UniProtKB Site 974 974 . . . Note=Calcium ion selectivity and permeability;Ontology_term=ECO:0000250;evidence=ECO:0000250 O95180 UniProtKB Site 1504 1504 . . . Note=Calcium ion selectivity and permeability;Ontology_term=ECO:0000250;evidence=ECO:0000250 O95180 UniProtKB Site 1808 1808 . . . Note=Calcium ion selectivity and permeability;Ontology_term=ECO:0000250;evidence=ECO:0000250 O95180 UniProtKB Glycosylation 192 192 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Glycosylation 271 271 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Glycosylation 1466 1466 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O95180 UniProtKB Alternative sequence 1587 1593 . . . ID=VSP_000949;Note=In isoform 2. STFPSPE->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11751928;Dbxref=PMID:11751928 O95180 UniProtKB Natural variant 161 161 . . . ID=VAR_045935;Note=In ECA6%3B uncertain significance. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs119454947,PMID:12891677 O95180 UniProtKB Natural variant 196 196 . . . ID=VAR_077064;Note=In HALD4%3B changed calcium channel activity%3B increased aldosterone production in response to potassium ion stimulation%3B increased expression of genes involved in aldosterone biosynthesis%2C with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27729216;Dbxref=dbSNP:rs780596901,PMID:27729216 O95180 UniProtKB Natural variant 282 282 . . . ID=VAR_045936;Note=In ECA6%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs119454948,PMID:12891677 O95180 UniProtKB Natural variant 313 313 . . . ID=VAR_045937;Note=M->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11157797,ECO:0000269|PubMed:12891677,ECO:0000269|PubMed:15616553;Dbxref=dbSNP:rs36117280,PMID:11157797,PMID:12891677,PMID:15616553 O95180 UniProtKB Natural variant 456 456 . . . ID=VAR_045938;Note=In ECA6%3B uncertain significance%3B results in increased T-current amplitude and lower threshold for spikes generation%3B results in increased neuronal excitability. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12891677,ECO:0000269|PubMed:24277868;Dbxref=PMID:12891677,PMID:24277868 O95180 UniProtKB Natural variant 499 499 . . . ID=VAR_045939;Note=In ECA6%3B likely benign. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs560915333,PMID:12891677 O95180 UniProtKB Natural variant 516 516 . . . ID=VAR_078237;Note=Found in a patient with drug-resistant focal epilepsy%3B uncertain significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519554,PMID:27864847 O95180 UniProtKB Natural variant 618 618 . . . ID=VAR_066986;Note=In EIG6%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048902;Dbxref=dbSNP:rs60734921,PMID:15048902 O95180 UniProtKB Natural variant 640 640 . . . ID=VAR_045940;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12891677,ECO:0000269|Ref.7;Dbxref=dbSNP:rs61734410,PMID:12891677 O95180 UniProtKB Natural variant 648 648 . . . ID=VAR_045941;Note=In ECA6%3B uncertain significance%3B creates a dileucine internalization motif that promotes recruitment of clathrin. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12891677,ECO:0000269|PubMed:30197081;Dbxref=dbSNP:rs1288484976,PMID:12891677,PMID:30197081 O95180 UniProtKB Natural variant 664 664 . . . ID=VAR_045942;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11751928,ECO:0000269|PubMed:12891677,ECO:0000269|PubMed:9670923;Dbxref=dbSNP:rs4984636,PMID:11751928,PMID:12891677,PMID:9670923 O95180 UniProtKB Natural variant 684 684 . . . ID=VAR_045943;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs762185083,PMID:12891677 O95180 UniProtKB Natural variant 744 744 . . . ID=VAR_045944;Note=In ECA6%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs373764821,PMID:12891677 O95180 UniProtKB Natural variant 748 748 . . . ID=VAR_045945;Note=In ECA6%3B uncertain significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs770371468,PMID:12891677 O95180 UniProtKB Natural variant 755 755 . . . ID=VAR_066987;Note=In EIG6%3B uncertain significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15048902;Dbxref=dbSNP:rs142306293,PMID:15048902 O95180 UniProtKB Natural variant 773 773 . . . ID=VAR_045946;Note=In ECA6%3B uncertain significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs267606697,PMID:12891677 O95180 UniProtKB Natural variant 784 784 . . . ID=VAR_045947;Note=In ECA6%3B uncertain significance. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs779526640,PMID:12891677 O95180 UniProtKB Natural variant 788 788 . . . ID=VAR_045948;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs3751664,PMID:12891677 O95180 UniProtKB Natural variant 812 812 . . . ID=VAR_045949;Note=V->M;Dbxref=dbSNP:rs28365119 O95180 UniProtKB Natural variant 831 831 . . . ID=VAR_045950;Note=In ECA6%3B uncertain significance. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs119454949,PMID:12891677 O95180 UniProtKB Natural variant 848 848 . . . ID=VAR_045951;Note=In ECA6%3B uncertain significance. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs374272094,PMID:12891677 O95180 UniProtKB Natural variant 1463 1463 . . . ID=VAR_045952;Note=In ECA6%3B uncertain significance. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs542245543,PMID:12891677 O95180 UniProtKB Natural variant 1549 1549 . . . ID=VAR_077065;Note=In HALD4%3B changed calcium channel activity%3B increased aldosterone production in response to potassium ion stimulation%3B increased expression of genes involved in aldosterone biosynthesis%2C with the strongest effect observed on CYP11B2 expression in response to potassium ion stimulation. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27729216;Dbxref=PMID:27729216 O95180 UniProtKB Natural variant 1549 1549 . . . ID=VAR_077066;Note=In HALD4%3B changed calcium channel activity. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25907736;Dbxref=dbSNP:rs786205050,PMID:25907736 O95180 UniProtKB Natural variant 1871 1871 . . . ID=VAR_061104;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28501589;Dbxref=dbSNP:rs58124832,PMID:28501589 O95180 UniProtKB Natural variant 1951 1951 . . . ID=VAR_077067;Note=Found in a patient with aldosterone-producing adenoma and aldosterism%3B uncertain significance%3B changed Ca(2+) channel activity. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27729216;Dbxref=dbSNP:rs746967306,PMID:27729216 O95180 UniProtKB Natural variant 1970 1970 . . . ID=VAR_078702;Note=Found in a patient with autism%3B uncertain significance. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26637798;Dbxref=dbSNP:rs1267377730,PMID:26637798 O95180 UniProtKB Natural variant 1974 1974 . . . ID=VAR_033698;Note=E->G;Dbxref=dbSNP:rs3751886 O95180 UniProtKB Natural variant 2060 2060 . . . ID=VAR_045953;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11157797,ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs1054644,PMID:11157797,PMID:12891677 O95180 UniProtKB Natural variant 2077 2077 . . . ID=VAR_045954;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12891677,ECO:0000269|PubMed:9930755,ECO:0000269|Ref.7;Dbxref=dbSNP:rs1054645,PMID:12891677,PMID:9930755 O95180 UniProtKB Natural variant 2083 2083 . . . ID=VAR_077068;Note=In HALD4%3B changed calcium channel activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27729216;Dbxref=dbSNP:rs759924732,PMID:27729216 O95180 UniProtKB Natural variant 2173 2173 . . . ID=VAR_045955;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12891677;Dbxref=dbSNP:rs200675829,PMID:12891677 O95180 UniProtKB Sequence conflict 7 7 . . . Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95180 UniProtKB Sequence conflict 31 31 . . . Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95180 UniProtKB Sequence conflict 55 55 . . . Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95180 UniProtKB Sequence conflict 94 94 . . . Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95180 UniProtKB Sequence conflict 215 215 . . . Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95180 UniProtKB Sequence conflict 1587 1587 . . . Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305