##gff-version 3 O00115 UniProtKB Signal peptide 1 18 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 O00115 UniProtKB Chain 19 360 . . . ID=PRO_0000007291;Note=Deoxyribonuclease-2-alpha O00115 UniProtKB Active site 295 295 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 O00115 UniProtKB Glycosylation 86 86 . . . Note=N-linked (GlcNAc...) asparagine O00115 UniProtKB Glycosylation 212 212 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754519,ECO:0000269|PubMed:19159218;Dbxref=PMID:12754519,PMID:19159218 O00115 UniProtKB Glycosylation 266 266 . . . Note=N-linked (GlcNAc...) asparagine O00115 UniProtKB Glycosylation 290 290 . . . Note=N-linked (GlcNAc...) asparagine O00115 UniProtKB Disulfide bond 19 159 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 O00115 UniProtKB Disulfide bond 267 347 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 O00115 UniProtKB Disulfide bond 308 327 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 O00115 UniProtKB Alternative sequence 116 170 . . . ID=VSP_056921;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 O00115 UniProtKB Natural variant 39 39 . . . ID=VAR_048870;Note=R->I;Dbxref=dbSNP:rs36075196 O00115 UniProtKB Natural variant 95 95 . . . ID=VAR_087103;Note=In AIPCS%3B complete loss of DNase activity in a single radial enzyme diffusion assay%2C confirmed by deficiency in DNA degradation in the granulocytes of a homozygous patient%3B no effect on expression level. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31775019;Dbxref=dbSNP:rs201030953,PMID:31775019 O00115 UniProtKB Natural variant 116 116 . . . ID=VAR_087104;Note=In AIPCS%3B the genetic variation producing this missense variant predominantly affects splicing and the protein resulting from this aberrant splicing may be unstable%3B reduced DNase activity. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29259162;Dbxref=PMID:29259162 O00115 UniProtKB Natural variant 121 121 . . . ID=VAR_087105;Note=In AIPCS%3B reduced DNase activity. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29259162;Dbxref=PMID:29259162 O00115 UniProtKB Natural variant 204 204 . . . ID=VAR_048871;Note=H->R;Dbxref=dbSNP:rs16978744 O00115 UniProtKB Natural variant 314 314 . . . ID=VAR_012044;Note=R->L;Dbxref=dbSNP:rs1061192 O00115 UniProtKB Mutagenesis 19 19 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 86 86 . . . Note=Reduced N-glycosylation%2C complete loss of N-glycosylation%3B when associated with Q-212%3B Q-266 and Q-290. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 151 151 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 159 159 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 212 212 . . . Note=Reduced N-glycosylation%2C complete loss of N-glycosylation%3B when associated with Q-86%3B Q-266 and Q-290. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 266 266 . . . Note=Reduced N-glycosylation%2C complete loss of N-glycosylation%3B when associated with Q-86%3B Q-212 and Q-290. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 267 267 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 290 290 . . . Note=Reduced N-glycosylation%2C complete loss of N-glycosylation%3B when associated with Q-86%3B Q-212 and Q-266. N->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 295 295 . . . Note=Loss of activity%2C but not of DNA-binding. H->A%2CK%2CN%2CR%2CS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12594037;Dbxref=PMID:12594037 O00115 UniProtKB Mutagenesis 299 299 . . . Note=No effect. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 308 308 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 327 327 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Mutagenesis 347 347 . . . Note=Loss of activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12558498;Dbxref=PMID:12558498 O00115 UniProtKB Sequence conflict 160 171 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305