##gff-version 3 Q8N159 UniProtKB Transit peptide 1 18 . . . Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8N159 UniProtKB Chain 19 534 . . . ID=PRO_0000041930;Note=N-acetylglutamate synthase long form;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8N159 UniProtKB Chain 51 534 . . . ID=PRO_0000041931;Note=N-acetylglutamate synthase short form;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q8N159 UniProtKB Chain 92 534 . . . ID=PRO_0000041932;Note=N-acetylglutamate synthase conserved domain form;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q8N159 UniProtKB Domain 375 526 . . . Note=N-acetyltransferase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00532 Q8N159 UniProtKB Region 19 376 . . . Note=Amino-acid kinase domain (AAK) Q8N159 UniProtKB Region 19 99 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N159 UniProtKB Compositional bias 79 94 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8N159 UniProtKB Binding site 401 401 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:23894642,ECO:0007744|PDB:4K30;Dbxref=PMID:23894642 Q8N159 UniProtKB Binding site 444 444 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:23894642,ECO:0007744|PDB:4K30;Dbxref=PMID:23894642 Q8N159 UniProtKB Binding site 474 479 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:23894642,ECO:0007744|PDB:4K30;Dbxref=PMID:23894642 Q8N159 UniProtKB Natural variant 167 167 . . . ID=VAR_077329;Note=In NAGSD%3B uncertain significance. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=dbSNP:rs760267963,PMID:27037498 Q8N159 UniProtKB Natural variant 200 200 . . . ID=VAR_023505;Note=In NAGSD%3B markedly decreases activity. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15878741;Dbxref=dbSNP:rs1188223411,PMID:15878741 Q8N159 UniProtKB Natural variant 260 260 . . . ID=VAR_077330;Note=In NAGSD%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=PMID:27037498 Q8N159 UniProtKB Natural variant 264 264 . . . ID=VAR_077331;Note=In NAGSD%3B uncertain significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=dbSNP:rs1251891037,PMID:27037498 Q8N159 UniProtKB Natural variant 279 279 . . . ID=VAR_023506;Note=In NAGSD. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12754705;Dbxref=PMID:12754705 Q8N159 UniProtKB Natural variant 291 291 . . . ID=VAR_077332;Note=In NAGSD%3B uncertain significance. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=PMID:27037498 Q8N159 UniProtKB Natural variant 391 391 . . . ID=VAR_077333;Note=In NAGSD%3B uncertain significance. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=PMID:27037498 Q8N159 UniProtKB Natural variant 398 398 . . . ID=VAR_077334;Note=In NAGSD%3B uncertain significance. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=dbSNP:rs1312599995,PMID:27037498 Q8N159 UniProtKB Natural variant 410 410 . . . ID=VAR_023507;Note=In NAGSD%3B markedly decreases activity. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15878741;Dbxref=PMID:15878741 Q8N159 UniProtKB Natural variant 430 430 . . . ID=VAR_023508;Note=In NAGSD%3B markedly decreases activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754705,ECO:0000269|PubMed:15878741;Dbxref=dbSNP:rs104894605,PMID:12754705,PMID:15878741 Q8N159 UniProtKB Natural variant 457 457 . . . ID=VAR_077335;Note=In NAGSD%3B uncertain significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=dbSNP:rs1204011876,PMID:27037498 Q8N159 UniProtKB Natural variant 484 484 . . . ID=VAR_023509;Note=In NAGSD%3B markedly decreases activity. W->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12754705,ECO:0000269|PubMed:15878741;Dbxref=dbSNP:rs104894606,PMID:12754705,PMID:15878741 Q8N159 UniProtKB Natural variant 512 512 . . . ID=VAR_077336;Note=In NAGSD%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27037498;Dbxref=dbSNP:rs752415489,PMID:27037498 Q8N159 UniProtKB Natural variant 518 518 . . . ID=VAR_023510;Note=In NAGSD%3B markedly decreases activity. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15878741;Dbxref=dbSNP:rs745511282,PMID:15878741 Q8N159 UniProtKB Mutagenesis 441 441 . . . Note=15%25 reduction in catalytic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 Q8N159 UniProtKB Mutagenesis 479 479 . . . Note=7-fold reduction in catalytic activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 Q8N159 UniProtKB Mutagenesis 485 485 . . . Note=10-fold reduction in catalytic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23894642;Dbxref=PMID:23894642 Q8N159 UniProtKB Sequence conflict 94 94 . . . Note=E->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8N159 UniProtKB Beta strand 378 382 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 383 385 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 388 399 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 407 411 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 412 414 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Beta strand 415 420 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Beta strand 424 435 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Beta strand 438 447 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 451 467 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Beta strand 471 476 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 482 487 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Beta strand 489 494 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Beta strand 496 503 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 508 510 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30 Q8N159 UniProtKB Helix 511 519 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4K30