##gff-version 3 O00555 UniProtKB Chain 1 2506 . . . ID=PRO_0000053916;Note=Voltage-dependent P/Q-type calcium channel subunit alpha-1A O00555 UniProtKB Topological domain 1 98 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 99 117 . . . Note=Helical%3B Name%3DS1 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 118 135 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 136 155 . . . Note=Helical%3B Name%3DS2 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 156 167 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 168 185 . . . Note=Helical%3B Name%3DS3 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 186 190 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 191 209 . . . Note=Helical%3B Name%3DS4 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 210 228 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 229 248 . . . Note=Helical%3B Name%3DS5 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 249 335 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 336 360 . . . Note=Helical%3B Name%3DS6 of repeat I;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 361 486 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 487 505 . . . Note=Helical%3B Name%3DS1 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 506 520 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 521 540 . . . Note=Helical%3B Name%3DS2 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 541 548 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 549 567 . . . Note=Helical%3B Name%3DS3 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 568 577 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 578 596 . . . Note=Helical%3B Name%3DS4 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 597 615 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 616 635 . . . Note=Helical%3B Name%3DS5 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 636 688 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 689 713 . . . Note=Helical%3B Name%3DS6 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 714 1241 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1242 1260 . . . Note=Helical%3B Name%3DS1 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1261 1276 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1277 1296 . . . Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1297 1308 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1309 1327 . . . Note=Helical%3B Name%3DS3 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1328 1338 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1339 1357 . . . Note=Helical%3B Name%3DS4 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1358 1376 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1377 1396 . . . Note=Helical%3B Name%3DS5 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1397 1483 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1484 1508 . . . Note=Helical%3B Name%3DS6 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1509 1563 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1564 1592 . . . Note=Helical%3B Name%3DS1 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1593 1597 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1598 1617 . . . Note=Helical%3B Name%3DS2 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1618 1625 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1626 1644 . . . Note=Helical%3B Name%3DS3 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1645 1651 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1652 1670 . . . Note=Helical%3B Name%3DS4 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1671 1689 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1690 1709 . . . Note=Helical%3B Name%3DS5 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1710 1781 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Transmembrane 1782 1806 . . . Note=Helical%3B Name%3DS6 of repeat IV;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Topological domain 1807 2506 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Repeat 85 363 . . . Note=I O00555 UniProtKB Repeat 472 716 . . . Note=II O00555 UniProtKB Repeat 1230 1513 . . . Note=III O00555 UniProtKB Repeat 1550 1813 . . . Note=IV O00555 UniProtKB Region 383 400 . . . Note=Binding to the beta subunit;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P27884 O00555 UniProtKB Region 818 1220 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Region 1988 2031 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Region 2043 2506 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 827 842 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 852 874 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 893 910 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 917 1033 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 1036 1053 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 1114 1128 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 1139 1161 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 1192 1214 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2043 2066 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2107 2123 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2134 2153 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2204 2221 . . . Note=Basic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2222 2258 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2259 2296 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2309 2330 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Compositional bias 2489 2506 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O00555 UniProtKB Binding site 318 318 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07293 O00555 UniProtKB Binding site 667 667 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07293 O00555 UniProtKB Binding site 1459 1459 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07293 O00555 UniProtKB Site 1648 1648 . . . Note=Binds to omega-Aga-IVA;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P27884 O00555 UniProtKB Modified residue 409 409 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 447 447 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 450 450 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 749 749 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 752 752 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 789 789 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 1084 1084 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 1093 1093 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 1983 1983 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 2046 2046 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54282 O00555 UniProtKB Modified residue 2064 2064 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 2076 2076 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54282 O00555 UniProtKB Modified residue 2078 2078 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54282 O00555 UniProtKB Modified residue 2119 2119 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97445 O00555 UniProtKB Modified residue 2139 2139 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54282 O00555 UniProtKB Glycosylation 283 283 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00555 UniProtKB Alternative sequence 418 418 . . . ID=VSP_059675;Note=In isoform 2%2C isoform 3%2C isoform 4%2C isoform 5 and isoform 6. D->DG O00555 UniProtKB Alternative sequence 724 724 . . . ID=VSP_059676;Note=In isoform 2. K->KVEA O00555 UniProtKB Alternative sequence 1650 1650 . . . ID=VSP_059677;Note=In isoform 2. G->GNP O00555 UniProtKB Alternative sequence 1843 1858 . . . ID=VSP_059678;Note=In isoform 3 and isoform 4. WGRMPYLDMYQMLRHM->CGRIHYKDMYSLLRVI O00555 UniProtKB Alternative sequence 1870 1874 . . . ID=VSP_059679;Note=In isoform 3 and isoform 4. ARVAY->HRVAC O00555 UniProtKB Alternative sequence 2102 2113 . . . ID=VSP_059680;Note=In isoform 5 and isoform 6. Missing O00555 UniProtKB Alternative sequence 2261 2506 . . . ID=VSP_059681;Note=In isoform 2%2C isoform 3 and isoform 5. Missing O00555 UniProtKB Alternative sequence 2323 2324 . . . ID=VSP_059682;Note=In isoform 4 and isoform 6. Missing O00555 UniProtKB Natural variant 21 21 . . . ID=VAR_014456;Note=A->V;Dbxref=dbSNP:rs15999 O00555 UniProtKB Natural variant 101 101 . . . ID=VAR_077071;Note=In DEE42. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037944,PMID:27476654 O00555 UniProtKB Natural variant 192 192 . . . ID=VAR_001491;Note=In FHM1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8898206;Dbxref=dbSNP:rs121908211,PMID:8898206 O00555 UniProtKB Natural variant 195 195 . . . ID=VAR_043820;Note=In FHM1. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908222,PMID:11439943 O00555 UniProtKB Natural variant 218 218 . . . ID=VAR_043821;Note=In FHM1. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11409427;Dbxref=dbSNP:rs121908225,PMID:11409427 O00555 UniProtKB Natural variant 248 248 . . . ID=VAR_063683;Note=In EA2. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18602318;Dbxref=dbSNP:rs121908238,PMID:18602318 O00555 UniProtKB Natural variant 253 253 . . . ID=VAR_043822;Note=In EA2. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12420090;Dbxref=dbSNP:rs121908228,PMID:12420090 O00555 UniProtKB Natural variant 256 256 . . . ID=VAR_043823;Note=In EA2. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15173248;Dbxref=dbSNP:rs121908231,PMID:15173248 O00555 UniProtKB Natural variant 287 287 . . . ID=VAR_043824;Note=In EA2. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14718690;Dbxref=dbSNP:rs121908236,PMID:14718690 O00555 UniProtKB Natural variant 293 293 . . . ID=VAR_043825;Note=In EA2 and SCA6. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14718690,ECO:0000269|PubMed:9345107;Dbxref=dbSNP:rs121908215,PMID:14718690,PMID:9345107 O00555 UniProtKB Natural variant 388 388 . . . ID=VAR_067342;Note=In EA2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21696515;Dbxref=PMID:21696515 O00555 UniProtKB Natural variant 389 389 . . . ID=VAR_063684;Note=In EA2. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129625;Dbxref=dbSNP:rs121908239,PMID:20129625 O00555 UniProtKB Natural variant 405 405 . . . ID=VAR_063685;Note=In SCA6. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20682717;Dbxref=dbSNP:rs121908245,PMID:20682717 O00555 UniProtKB Natural variant 453 453 . . . ID=VAR_063686;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8898206;Dbxref=dbSNP:rs41276886,PMID:8898206 O00555 UniProtKB Natural variant 500 500 . . . ID=VAR_063687;Note=In EA2. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129625;Dbxref=dbSNP:rs121908240,PMID:20129625 O00555 UniProtKB Natural variant 582 582 . . . ID=VAR_043826;Note=In FHM1 and SCA6. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11439943,ECO:0000269|PubMed:28900389,ECO:0000269|PubMed:29053796;Dbxref=dbSNP:rs121908217,PMID:11439943,PMID:28900389,PMID:29053796 O00555 UniProtKB Natural variant 637 637 . . . ID=VAR_063688;Note=In EA2%3B decreased voltage-gated calcium channel activity%3B reduces P/Q current densities. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19232643;Dbxref=dbSNP:rs121908246,PMID:19232643 O00555 UniProtKB Natural variant 665 665 . . . ID=VAR_001492;Note=In FHM1 and EA2. T->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11439943,ECO:0000269|PubMed:14718690,ECO:0000269|PubMed:8898206;Dbxref=dbSNP:rs121908212,PMID:11439943,PMID:14718690,PMID:8898206 O00555 UniProtKB Natural variant 712 712 . . . ID=VAR_077072;Note=In DEE42. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037945,PMID:27476654 O00555 UniProtKB Natural variant 713 713 . . . ID=VAR_001493;Note=In FHM1. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8898206;Dbxref=dbSNP:rs121908213,PMID:8898206 O00555 UniProtKB Natural variant 714 714 . . . ID=VAR_043827;Note=In FHM1. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908218,PMID:11439943 O00555 UniProtKB Natural variant 731 731 . . . ID=VAR_059221;Note=E->A;Dbxref=dbSNP:rs16019 O00555 UniProtKB Natural variant 797 797 . . . ID=VAR_063689;Note=In EA2. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129625;Dbxref=dbSNP:rs121908241,PMID:20129625 O00555 UniProtKB Natural variant 896 896 . . . ID=VAR_063690;Note=In EA2. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129625;Dbxref=dbSNP:rs121908242,PMID:20129625 O00555 UniProtKB Natural variant 913 913 . . . ID=VAR_014458;Note=P->S;Dbxref=dbSNP:rs16020 O00555 UniProtKB Natural variant 917 917 . . . ID=VAR_014459;Note=E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16866717,ECO:0000269|PubMed:19429006;Dbxref=dbSNP:rs16022,PMID:16866717,PMID:19429006 O00555 UniProtKB Natural variant 992 992 . . . ID=VAR_043828;Note=E->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10408532,ECO:0000269|PubMed:16866717,ECO:0000269|PubMed:19429006;Dbxref=dbSNP:rs16023,PMID:10408532,PMID:16866717,PMID:19429006 O00555 UniProtKB Natural variant 1014 1014 . . . ID=VAR_014461;Note=E->K;Dbxref=dbSNP:rs16024 O00555 UniProtKB Natural variant 1104 1104 . . . ID=VAR_014462;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10753886,ECO:0000269|PubMed:16866717;Dbxref=dbSNP:rs16027,PMID:10753886,PMID:16866717 O00555 UniProtKB Natural variant 1172 1172 . . . ID=VAR_059222;Note=P->L;Dbxref=dbSNP:rs16028 O00555 UniProtKB Natural variant 1334 1334 . . . ID=VAR_043829;Note=In FHM1. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908223,PMID:11439943 O00555 UniProtKB Natural variant 1337 1337 . . . ID=VAR_080738;Note=In SCA6. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29053796;Dbxref=dbSNP:rs1568473283,PMID:29053796 O00555 UniProtKB Natural variant 1345 1345 . . . ID=VAR_043830;Note=In FHM1%3B with progressive cerebellar ataxia. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15032980,ECO:0000269|PubMed:18400034;Dbxref=dbSNP:rs121908230,PMID:15032980,PMID:18400034 O00555 UniProtKB Natural variant 1383 1383 . . . ID=VAR_043831;Note=In FHM1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908219,PMID:11439943 O00555 UniProtKB Natural variant 1402 1402 . . . ID=VAR_043832;Note=In EA2%3B loss of voltage-gated calcium channel activity. F->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11723274;Dbxref=dbSNP:rs121908227,PMID:11723274 O00555 UniProtKB Natural variant 1435 1435 . . . ID=VAR_077073;Note=In DEE42. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27250579;Dbxref=PMID:27250579 O00555 UniProtKB Natural variant 1455 1455 . . . ID=VAR_043833;Note=In FHM1. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10408532;Dbxref=dbSNP:rs121908237,PMID:10408532 O00555 UniProtKB Natural variant 1481 1481 . . . ID=VAR_043834;Note=In EA2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15173248;Dbxref=dbSNP:rs121908232,PMID:15173248 O00555 UniProtKB Natural variant 1489 1489 . . . ID=VAR_043835;Note=In EA2. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15173248;Dbxref=dbSNP:rs121908233,PMID:15173248 O00555 UniProtKB Natural variant 1492 1492 . . . ID=VAR_043836;Note=In EA2. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15173248;Dbxref=dbSNP:rs121908234,PMID:15173248 O00555 UniProtKB Natural variant 1501 1501 . . . ID=VAR_077074;Note=In FHM1%3B increased high voltage-gated calcium channel activity. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24836863,ECO:0000269|PubMed:26716990;Dbxref=dbSNP:rs1131691374,PMID:24836863,PMID:26716990 O00555 UniProtKB Natural variant 1507 1507 . . . ID=VAR_077075;Note=In DEE42. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27476654;Dbxref=dbSNP:rs886037946,PMID:27476654 O00555 UniProtKB Natural variant 1545 2506 . . . ID=VAR_080739;Note=In EA2 and SCA6. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10408533,ECO:0000269|PubMed:29053796;Dbxref=PMID:10408533,PMID:29053796 O00555 UniProtKB Natural variant 1633 1633 . . . ID=VAR_085042;Note=Found in a patient with late onset progressive myoclonus epilepsy%3B uncertain significance. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33798445;Dbxref=dbSNP:rs1555740805,PMID:33798445 O00555 UniProtKB Natural variant 1660 1660 . . . ID=VAR_043837;Note=In EA2. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10987655;Dbxref=dbSNP:rs121908216,PMID:10987655 O00555 UniProtKB Natural variant 1663 1663 . . . ID=VAR_063691;Note=In SCA6%3B also found in patients with global developmental delay and congenital ataxia%3B loss of function observed in the Drosophila homolog. R->Q;Ontology_term=ECO:0000250,ECO:0000269,ECO:0000269;evidence=ECO:0000250|UniProtKB:P91645,ECO:0000269|PubMed:16325861,ECO:0000269|PubMed:28742085;Dbxref=dbSNP:rs121908247,PMID:16325861,PMID:28742085 O00555 UniProtKB Natural variant 1666 1666 . . . ID=VAR_043838;Note=In FHM1. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908220,PMID:11439943 O00555 UniProtKB Natural variant 1672 1672 . . . ID=VAR_079826;Note=Also found in patients with global developmental delay and congenital ataxia%3B gain of function observed in the Drosophila homolog. R->P;Ontology_term=ECO:0000250,ECO:0000269;evidence=ECO:0000250|UniProtKB:P91645,ECO:0000269|PubMed:28742085;Dbxref=dbSNP:rs1057519429,PMID:28742085 O00555 UniProtKB Natural variant 1678 1678 . . . ID=VAR_063692;Note=In EA2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129625;Dbxref=dbSNP:rs121908243,PMID:20129625 O00555 UniProtKB Natural variant 1682 1682 . . . ID=VAR_043839;Note=In FHM1. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908221,PMID:11439943 O00555 UniProtKB Natural variant 1694 1694 . . . ID=VAR_063706;Note=In FHM1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11439943;Dbxref=dbSNP:rs121908224,PMID:11439943 O00555 UniProtKB Natural variant 1735 1735 . . . ID=VAR_043840;Note=In EA2%3B changed high voltage-gated calcium channel activity. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15293273;Dbxref=dbSNP:rs121908229,PMID:15293273 O00555 UniProtKB Natural variant 1755 1755 . . . ID=VAR_043841;Note=In EA2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11176968;Dbxref=dbSNP:rs121908226,PMID:11176968 O00555 UniProtKB Natural variant 1809 1809 . . . ID=VAR_001494;Note=In FHM1. I->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8898206;Dbxref=dbSNP:rs121908214,PMID:8898206 O00555 UniProtKB Natural variant 1868 1868 . . . ID=VAR_063693;Note=In EA2. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20129625;Dbxref=dbSNP:rs121908244,PMID:20129625 O00555 UniProtKB Natural variant 2134 2134 . . . ID=VAR_043842;Note=In EA2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15173248;Dbxref=dbSNP:rs121908235,PMID:15173248 O00555 UniProtKB Natural variant 2395 2395 . . . ID=VAR_014463;Note=P->S;Dbxref=dbSNP:rs16056 O00555 UniProtKB Sequence conflict 895 895 . . . Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 952 952 . . . Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 963 963 . . . Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 1206 1206 . . . Note=E->EE;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 1312 1314 . . . Note=WNI->ILP;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 1458 1458 . . . Note=G->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 1603 1603 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 1616 1616 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 1692 1692 . . . Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 2037 2037 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Sequence conflict 2325 2325 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00555 UniProtKB Helix 1955 1969 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3BXK