##gff-version 3 P51530 UniProtKB Chain 1 1060 . . . ID=PRO_0000080712;Note=DNA replication ATP-dependent helicase/nuclease DNA2 P51530 UniProtKB Region 81 519 . . . Note=Nuclease activity;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51530 UniProtKB Region 520 1060 . . . Note=Helicase activity;Ontology_term=ECO:0000250;evidence=ECO:0000250 P51530 UniProtKB Binding site 136 136 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51530 UniProtKB Binding site 393 393 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51530 UniProtKB Binding site 396 396 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51530 UniProtKB Binding site 402 402 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P51530 UniProtKB Binding site 648 655 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 P51530 UniProtKB Alternative sequence 663 900 . . . ID=VSP_021869;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P51530 UniProtKB Alternative sequence 664 687 . . . ID=VSP_021870;Note=In isoform 2. ILYACGFSVLLTSYTHSAVDNILL->FRRFIQLSSNLQSKKFADQSPLNP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P51530 UniProtKB Alternative sequence 688 1060 . . . ID=VSP_021871;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P51530 UniProtKB Alternative sequence 1040 1060 . . . ID=VSP_044185;Note=In isoform 4. IDLPSREHESLCHILGDFQRE->SFFFCIWSHLIAL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P51530 UniProtKB Natural variant 198 198 . . . ID=VAR_069905;Note=In PEOA6%3B the mutant protein has a complete loss of nuclease activity and severely impaired helicase activity%3B consistent with a loss of function mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23352259;Dbxref=dbSNP:rs1272393477,PMID:23352259 P51530 UniProtKB Natural variant 227 227 . . . ID=VAR_069906;Note=In PEOA6%3B the mutant protein has significantly reduced nuclease and helicase activity%3B consistent with a loss of function mutation. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23352259;Dbxref=dbSNP:rs760412883,PMID:23352259 P51530 UniProtKB Natural variant 637 637 . . . ID=VAR_069907;Note=In PEOA6%3B the mutant protein has decreased nuclease activity (30%25 of wild-type) and enhanced helicase activity%3B consistent with a loss of function mutation. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23352259;Dbxref=dbSNP:rs746522359,PMID:23352259 P51530 UniProtKB Mutagenesis 277 277 . . . Note=Abolishes ability to resect DNA in present of BLM. D->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16595800,ECO:0000269|PubMed:21325134,ECO:0000269|PubMed:22570476;Dbxref=PMID:16595800,PMID:21325134,PMID:22570476 P51530 UniProtKB Mutagenesis 654 654 . . . Note=Abolishes ability to unwind DNA%2C while it does not affect ability to resect DNA. K->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16595800,ECO:0000269|PubMed:21325134,ECO:0000269|PubMed:21572043,ECO:0000269|PubMed:22570476;Dbxref=PMID:16595800,PMID:21325134,PMID:21572043,PMID:22570476 P51530 UniProtKB Sequence conflict 986 986 . . . Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 P51530 UniProtKB Helix 7 10 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5EAY