##gff-version 3 Q99519 UniProtKB Signal peptide 1 47 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9480870;Dbxref=PMID:9480870 Q99519 UniProtKB Chain 48 415 . . . ID=PRO_0000012026;Note=Sialidase-1 Q99519 UniProtKB Repeat 112 123 . . . Note=BNR 1 Q99519 UniProtKB Repeat 172 183 . . . Note=BNR 2 Q99519 UniProtKB Repeat 231 242 . . . Note=BNR 3 Q99519 UniProtKB Repeat 347 358 . . . Note=BNR 4 Q99519 UniProtKB Motif 77 80 . . . Note=FRIP motif Q99519 UniProtKB Motif 412 415 . . . Note=Internalization signal Q99519 UniProtKB Active site 103 103 . . . Note=Proton acceptor;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Active site 370 370 . . . Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Active site 394 394 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q99519 UniProtKB Binding site 78 78 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Binding site 97 97 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Binding site 264 264 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Binding site 280 280 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Binding site 341 341 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q99519 UniProtKB Glycosylation 186 186 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q99519 UniProtKB Glycosylation 343 343 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q99519 UniProtKB Glycosylation 352 352 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 Q99519 UniProtKB Natural variant 54 54 . . . ID=VAR_012207;Note=In SIALIDOSIS%3B type 1%3B mild mutation as residual activity is still measurable. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11063730;Dbxref=PMID:11063730 Q99519 UniProtKB Natural variant 68 68 . . . ID=VAR_012208;Note=In SIALIDOSIS%3B type 2%3B less than 10%25 of activity. G->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074;Dbxref=PMID:10767332,PMID:11063730,PMID:11279074 Q99519 UniProtKB Natural variant 80 80 . . . ID=VAR_017460;Note=In SIALIDOSIS%3B type 2%3B no enzyme activity%3B retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829139;Dbxref=dbSNP:rs104893985,PMID:11829139 Q99519 UniProtKB Natural variant 88 88 . . . ID=VAR_049203;Note=Does not affect sialidase activity. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs34712643,PMID:25153125 Q99519 UniProtKB Natural variant 90 90 . . . ID=VAR_079557;Note=Does not affect sialidase activity. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs374556080,PMID:25153125 Q99519 UniProtKB Natural variant 91 91 . . . ID=VAR_012209;Note=In SIALIDOSIS%3B type 2. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:8985184;Dbxref=dbSNP:rs104893972,PMID:11063730,PMID:8985184 Q99519 UniProtKB Natural variant 179 179 . . . ID=VAR_079558;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs150302766,PMID:25153125 Q99519 UniProtKB Natural variant 182 182 . . . ID=VAR_012210;Note=In SIALIDOSIS%3B type 1%3B normally processed. S->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074,ECO:0000269|PubMed:33798445;Dbxref=dbSNP:rs398123392,PMID:10767332,PMID:11063730,PMID:11279074,PMID:33798445 Q99519 UniProtKB Natural variant 208 208 . . . ID=VAR_079559;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs375104221,PMID:25153125 Q99519 UniProtKB Natural variant 210 210 . . . ID=VAR_079560;Note=Does not affect sialidase activity. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs151177689,PMID:25153125 Q99519 UniProtKB Natural variant 217 217 . . . ID=VAR_079561;Note=Significant decrease in sialidase activity%3B absence of lysosomal localization%3B mislocalization to the endoplasmic reticulum. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs146850952,PMID:25153125 Q99519 UniProtKB Natural variant 217 217 . . . ID=VAR_012211;Note=In SIALIDOSIS%3B type 1%3B partial transport and residual transport activity. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944856,ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs28940583,PMID:10944856,PMID:25153125 Q99519 UniProtKB Natural variant 219 219 . . . ID=VAR_012212;Note=In SIALIDOSIS%3B type 1%3B unable to reach the lysosomes. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11063730;Dbxref=dbSNP:rs754068739,PMID:11063730 Q99519 UniProtKB Natural variant 222 222 . . . ID=VAR_079562;Note=Does not affect sialidase activity. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs201684013,PMID:25153125 Q99519 UniProtKB Natural variant 225 225 . . . ID=VAR_018076;Note=In SIALIDOSIS%3B type 2%3B impaired enzyme folding. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14695530;Dbxref=dbSNP:rs104893980,PMID:14695530 Q99519 UniProtKB Natural variant 227 227 . . . ID=VAR_012213;Note=In SIALIDOSIS%3B type 1 and juvenile type 2%3B catalytically inactive%3B retained in pre-lysosomal compartments. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074;Dbxref=dbSNP:rs769765227,PMID:10767332,PMID:11063730,PMID:11279074 Q99519 UniProtKB Natural variant 231 231 . . . ID=VAR_012214;Note=In SIALIDOSIS%3B type 1%3B unable to reach the lysosomes. L->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11063730;Dbxref=dbSNP:rs762400331,PMID:11063730 Q99519 UniProtKB Natural variant 234 234 . . . ID=VAR_079563;Note=Significant decrease in sialidase activity%3B absence of lysosomal localization%3B mislocalization to the endoplasmic reticulum. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs143868999,PMID:25153125 Q99519 UniProtKB Natural variant 240 240 . . . ID=VAR_012215;Note=In SIALIDOSIS%3B type 2%3B no enzyme activity%3B retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. W->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11279074,ECO:0000269|PubMed:11829139;Dbxref=dbSNP:rs104893978,PMID:11279074,PMID:11829139 Q99519 UniProtKB Natural variant 243 243 . . . ID=VAR_012216;Note=In SIALIDOSIS%3B type 1%3B no enzyme activity and no transport to the lysosome. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944856,ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs104893983,PMID:10944856,PMID:25153125 Q99519 UniProtKB Natural variant 248 248 . . . ID=VAR_079564;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs373311653,PMID:25153125 Q99519 UniProtKB Natural variant 252 252 . . . ID=VAR_079565;Note=Does not affect sialidase activity. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs145177628,PMID:25153125 Q99519 UniProtKB Natural variant 260 260 . . . ID=VAR_012217;Note=In SIALIDOSIS%3B infantile type 2%3B catalytically inactive%3B rapid intralysosomal degradation. F->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074,ECO:0000269|PubMed:9054950;Dbxref=dbSNP:rs104893977,PMID:10767332,PMID:11063730,PMID:11279074,PMID:9054950 Q99519 UniProtKB Natural variant 270 270 . . . ID=VAR_012219;Note=In SIALIDOSIS%3B type 2%3B reduction in enzyme activity%3B rapid intralysosomal degradation. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11279074;Dbxref=PMID:10767332,PMID:11279074 Q99519 UniProtKB Natural variant 270 270 . . . ID=VAR_012218;Note=In SIALIDOSIS. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11063730;Dbxref=PMID:11063730 Q99519 UniProtKB Natural variant 279 279 . . . ID=VAR_079566;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs368320390,PMID:25153125 Q99519 UniProtKB Natural variant 294 294 . . . ID=VAR_012220;Note=In SIALIDOSIS%3B type 1%3B mild mutation as residual activity is still measurable. R->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs190549838,PMID:11063730,PMID:25153125 Q99519 UniProtKB Natural variant 298 298 . . . ID=VAR_012221;Note=In SIALIDOSIS%3B type 2%3B less than 10%25 of activity%3B rapid intralysosomal degradation%3B impaired enzyme folding. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074,ECO:0000269|PubMed:14695530;Dbxref=dbSNP:rs104893981,PMID:10767332,PMID:11063730,PMID:11279074,PMID:14695530 Q99519 UniProtKB Natural variant 316 316 . . . ID=VAR_017461;Note=In SIALIDOSIS%3B type 1%3B no enzyme activity%3B retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11829139;Dbxref=dbSNP:rs104893979,PMID:11829139 Q99519 UniProtKB Natural variant 328 328 . . . ID=VAR_012222;Note=In SIALIDOSIS%3B type 1%3B reduction in enzyme activity. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074;Dbxref=dbSNP:rs534846786,PMID:10767332,PMID:11063730,PMID:11279074 Q99519 UniProtKB Natural variant 335 335 . . . ID=VAR_012223;Note=In SIALIDOSIS%3B type 2%3B unable to reach the lysosomes. P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11063730;Dbxref=dbSNP:rs749996046,PMID:11063730 Q99519 UniProtKB Natural variant 341 341 . . . ID=VAR_018077;Note=In SIALIDOSIS%3B type 2%3B affects substrate binding or catalysis. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14695530;Dbxref=dbSNP:rs751458617,PMID:14695530 Q99519 UniProtKB Natural variant 351 351 . . . ID=VAR_079567;Note=Does not affect sialidase activity. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs377573360,PMID:25153125 Q99519 UniProtKB Natural variant 357 357 . . . ID=VAR_079568;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25153125;Dbxref=dbSNP:rs139301823,PMID:25153125 Q99519 UniProtKB Natural variant 363 363 . . . ID=VAR_012224;Note=In SIALIDOSIS%3B infantile type 2%3B unable to reach the lysosomes. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10767332,ECO:0000269|PubMed:11063730,ECO:0000269|PubMed:11279074,ECO:0000269|PubMed:9054950;Dbxref=dbSNP:rs193922915,PMID:10767332,PMID:11063730,PMID:11279074,PMID:9054950 Q99519 UniProtKB Natural variant 370 370 . . . ID=VAR_012225;Note=In SIALIDOSIS%3B infantile type 2%3B catalytically inactive. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11063730;Dbxref=dbSNP:rs1310267862,PMID:11063730 Q99519 UniProtKB Natural variant 400 400 . . . ID=VAR_012226;Note=In SIALIDOSIS%3B type 1%3B mild mutation as residual activity is still measurable. Y->YHY Q99519 UniProtKB Mutagenesis 412 412 . . . Note=Correct sorting to the plasma membrane but no endocytosis and internalization. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11571282;Dbxref=PMID:11571282 Q99519 UniProtKB Mutagenesis 413 413 . . . Note=Correct sorting to the plasma membrane but no endocytosis and internalization. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11571282;Dbxref=PMID:11571282 Q99519 UniProtKB Mutagenesis 415 415 . . . Note=Correct sorting to the plasma membrane but no endocytosis and internalization. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11571282;Dbxref=PMID:11571282