##gff-version 3 P61764 UniProtKB Chain 1 594 . . . ID=PRO_0000206277;Note=Syntaxin-binding protein 1 P61764 UniProtKB Modified residue 476 476 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P61765 P61764 UniProtKB Modified residue 509 509 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08599 P61764 UniProtKB Modified residue 511 511 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08599 P61764 UniProtKB Modified residue 516 516 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08599 P61764 UniProtKB Modified residue 593 593 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P61765 P61764 UniProtKB Alternative sequence 576 594 . . . ID=VSP_006713;Note=In isoform 2. QKLLDTLKKLNKTDEEISS->TKFLMDLRHPDFRESSRVSFEDQAPTME;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9545644;Dbxref=PMID:9545644 P61764 UniProtKB Natural variant 42 42 . . . ID=VAR_078631;Note=In DEE4. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 P61764 UniProtKB Natural variant 80 80 . . . ID=VAR_078632;Note=Found in a patient with epileptic encephalopathy%3B likely pathogenic. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=dbSNP:rs1840867221,PMID:23708187 P61764 UniProtKB Natural variant 84 84 . . . ID=VAR_046205;Note=In DEE4%3B may alter protein structure. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18469812;Dbxref=dbSNP:rs121918320,PMID:18469812 P61764 UniProtKB Natural variant 84 84 . . . ID=VAR_073148;Note=No effect on subcellular location. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887364;Dbxref=dbSNP:rs34830702,PMID:20887364 P61764 UniProtKB Natural variant 122 594 . . . ID=VAR_078757;Note=In DEE4. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25818041;Dbxref=PMID:25818041 P61764 UniProtKB Natural variant 180 180 . . . ID=VAR_046206;Note=In DEE4%3B reduced thermostability%3B decreased binding to STX1A. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18469812;Dbxref=dbSNP:rs121918318,PMID:18469812 P61764 UniProtKB Natural variant 183 183 . . . ID=VAR_073149;Note=In DEE4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21770924;Dbxref=PMID:21770924 P61764 UniProtKB Natural variant 190 190 . . . ID=VAR_078633;Note=In DEE4. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=dbSNP:rs796053355,PMID:23708187 P61764 UniProtKB Natural variant 251 251 . . . ID=VAR_073150;Note=In DEE4. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24170257;Dbxref=PMID:24170257 P61764 UniProtKB Natural variant 281 281 . . . ID=VAR_078758;Note=In DEE4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267 P61764 UniProtKB Natural variant 283 283 . . . ID=VAR_071814;Note=In DEE4. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24623842;Dbxref=dbSNP:rs587777310,PMID:24623842 P61764 UniProtKB Natural variant 285 285 . . . ID=VAR_071815;Note=In DEE4. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24623842;Dbxref=PMID:24623842 P61764 UniProtKB Natural variant 292 292 . . . ID=VAR_078759;Note=In DEE4. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=dbSNP:rs796053361,PMID:26993267 P61764 UniProtKB Natural variant 354 354 . . . ID=VAR_078634;Note=In DEE4. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=dbSNP:rs886041337,PMID:23708187 P61764 UniProtKB Natural variant 406 406 . . . ID=VAR_078218;Note=In DEE4. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs796053367,PMID:27864847 P61764 UniProtKB Natural variant 406 406 . . . ID=VAR_073151;Note=In DEE4. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20887364,ECO:0000269|PubMed:25714420;Dbxref=dbSNP:rs886041246,PMID:20887364,PMID:25714420 P61764 UniProtKB Natural variant 431 431 . . . ID=VAR_073152;Note=Expressed at low levels compared with wild-type%3B no effect on subcellular location. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887364;Dbxref=PMID:20887364 P61764 UniProtKB Natural variant 443 443 . . . ID=VAR_046207;Note=In DEE4%3B may alter protein structure. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18469812;Dbxref=dbSNP:rs121918319,PMID:18469812 P61764 UniProtKB Natural variant 445 445 . . . ID=VAR_071816;Note=In DEE4. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24623842;Dbxref=PMID:24623842 P61764 UniProtKB Natural variant 480 480 . . . ID=VAR_073153;Note=In DEE4. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21770924;Dbxref=dbSNP:rs796053368,PMID:21770924 P61764 UniProtKB Natural variant 544 544 . . . ID=VAR_078635;Note=Found in a patient with Lennox-Gastaut syndrome%3B uncertain significance. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=dbSNP:rs1842044505,PMID:23708187 P61764 UniProtKB Natural variant 544 544 . . . ID=VAR_046208;Note=In DEE4%3B may alter protein structure. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18469812;Dbxref=dbSNP:rs121918317,PMID:18469812 P61764 UniProtKB Natural variant 570 570 . . . ID=VAR_078636;Note=Found in a patient with epileptic encephalopathy%3B likely pathogenic. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 P61764 UniProtKB Natural variant 574 574 . . . ID=VAR_073154;Note=In DEE4. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21770924;Dbxref=PMID:21770924