##gff-version 3 O95394 UniProtKB Chain 1 542 . . . ID=PRO_0000148013;Note=Phosphoacetylglucosamine mutase O95394 UniProtKB Active site 64 64 . . . Note=Phosphoserine intermediate;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11004509;Dbxref=PMID:11004509 O95394 UniProtKB Binding site 64 64 . . . Note=Via phosphate group;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Binding site 276 276 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Binding site 278 278 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Binding site 280 280 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Binding site 370 372 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Binding site 496 500 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Binding site 505 505 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9P4V2 O95394 UniProtKB Modified residue 1 1 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19413330,ECO:0007744|PubMed:22223895;Dbxref=PMID:19413330,PMID:22223895 O95394 UniProtKB Modified residue 62 62 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 O95394 UniProtKB Modified residue 64 64 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID:23186163,PMID:24275569 O95394 UniProtKB Alternative sequence 1 1 . . . ID=VSP_047319;Note=In isoform 3. M->MGGEWGQSAICPESAQEWTYQVGQHLVDM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 O95394 UniProtKB Alternative sequence 542 542 . . . ID=VSP_047320;Note=In isoform 2. F->YKAAETTHNINNAFGPGTANEHTVP;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95394 UniProtKB Natural variant 83 83 . . . ID=VAR_071359;Note=In IMD23%3B decreased phosphoacetylglucosamine mutase activity%3B no effect on protein abundance. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24698316;Dbxref=dbSNP:rs267608260,PMID:24698316 O95394 UniProtKB Natural variant 239 239 . . . ID=VAR_071360;Note=In IMD23%3B decreased phosphoacetylglucosamine mutase activity. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24931394;Dbxref=dbSNP:rs869312886,PMID:24931394 O95394 UniProtKB Natural variant 246 246 . . . ID=VAR_071361;Note=In IMD23%3B loss of phosphoacetylglucosamine mutase activity. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24931394;Dbxref=dbSNP:rs587777562,PMID:24931394 O95394 UniProtKB Natural variant 297 297 . . . ID=VAR_071362;Note=In IMD23%3B decreased phosphoacetylglucosamine mutase activity%3B decreased protein abundance. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24589341;Dbxref=dbSNP:rs587777415,PMID:24589341 O95394 UniProtKB Natural variant 340 340 . . . ID=VAR_071363;Note=In IMD23%3B decreased phosphoacetylglucosamine mutase activity%3B decreased protein abundance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24698316;Dbxref=PMID:24698316 O95394 UniProtKB Natural variant 451 451 . . . ID=VAR_071364;Note=In IMD23%3B decreased phosphoacetylglucosamine mutase activity. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24931394;Dbxref=dbSNP:rs587777565,PMID:24931394 O95394 UniProtKB Natural variant 466 466 . . . ID=VAR_013489;Note=In allele PGM3*2. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11004509,ECO:0000269|PubMed:12174217,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs473267,PMID:11004509,PMID:12174217,PMID:15489334 O95394 UniProtKB Natural variant 501 501 . . . ID=VAR_071365;Note=In IMD23%3B decreased phosphoacetylglucosamine mutase activity%3B no effect on protein abundance. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24589341;Dbxref=dbSNP:rs587777413,PMID:24589341 O95394 UniProtKB Natural variant 502 502 . . . ID=VAR_071366;Note=In IMD23%3B decreased function in UUDP-N-acetylglucosamine biosynthetic process%3B no effect on protein abundance. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24698316;Dbxref=dbSNP:rs267608261,PMID:24698316 O95394 UniProtKB Mutagenesis 64 64 . . . Note=Loss of activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11004509;Dbxref=PMID:11004509 O95394 UniProtKB Mutagenesis 65 65 . . . Note=Loss of activity. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11004509;Dbxref=PMID:11004509 O95394 UniProtKB Mutagenesis 278 278 . . . Note=Loss of activity. D->A%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11004509;Dbxref=PMID:11004509 O95394 UniProtKB Mutagenesis 281 281 . . . Note=Loss of activity. R->A%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11004509;Dbxref=PMID:11004509 O95394 UniProtKB Sequence conflict 5 5 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 O95394 UniProtKB Sequence conflict 70 70 . . . Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305