##gff-version 3 P31327 UniProtKB Transit peptide 1 38 . . . Note=Mitochondrion;Ontology_term=ECO:0000250;evidence=ECO:0000250 P31327 UniProtKB Chain 39 1500 . . . ID=PRO_0000029897;Note=Carbamoyl-phosphate synthase [ammonia]%2C mitochondrial P31327 UniProtKB Domain 219 404 . . . Note=Glutamine amidotransferase type-1 P31327 UniProtKB Domain 551 743 . . . Note=ATP-grasp 1 P31327 UniProtKB Domain 1093 1284 . . . Note=ATP-grasp 2 P31327 UniProtKB Domain 1355 1500 . . . Note=MGS-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01202 P31327 UniProtKB Region 39 218 . . . Note=Anthranilate phosphoribosyltransferase homolog P31327 UniProtKB Binding site 1391 1391 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Binding site 1394 1394 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Binding site 1410 1410 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Binding site 1437 1437 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Binding site 1440 1440 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Binding site 1449 1449 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Modified residue 55 55 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 55 55 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 55 55 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 57 57 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 57 57 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 119 119 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 119 119 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 148 148 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P31327 UniProtKB Modified residue 157 157 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 157 157 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 171 171 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 171 171 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 176 176 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 182 182 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 197 197 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 207 207 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 207 207 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 207 207 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 210 210 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 210 210 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 214 214 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 214 214 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 214 214 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 219 219 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 219 219 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 228 228 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 228 228 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 237 237 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 280 280 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 280 280 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 287 287 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 287 287 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 307 307 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 307 307 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 307 307 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 310 310 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 310 310 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 400 400 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 402 402 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 402 402 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 412 412 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 412 412 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 412 412 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 453 453 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 453 453 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 458 458 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 458 458 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 458 458 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 522 522 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 522 522 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 527 527 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 527 527 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 527 527 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 532 532 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 532 532 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 537 537 . . . Note=Phosphoserine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 540 540 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07756 P31327 UniProtKB Modified residue 553 553 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 553 553 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 553 553 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 560 560 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 560 560 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 569 569 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P31327 UniProtKB Modified residue 575 575 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 575 575 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 612 612 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 612 612 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 630 630 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 728 728 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 751 751 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 751 751 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 757 757 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 757 757 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 757 757 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 772 772 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 772 772 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 793 793 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 793 793 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 793 793 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 811 811 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 811 811 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 831 831 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 831 831 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 835 835 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P31327 UniProtKB Modified residue 841 841 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 841 841 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 856 856 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 856 856 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 869 869 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 875 875 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 875 875 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 875 875 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 889 889 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 889 889 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 889 889 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 892 892 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 892 892 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 892 892 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 896 896 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07756 P31327 UniProtKB Modified residue 898 898 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07756 P31327 UniProtKB Modified residue 905 905 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 908 908 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 908 908 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 915 915 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 915 915 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 915 915 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 919 919 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 919 919 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 919 919 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 935 935 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1036 1036 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P31327 UniProtKB Modified residue 1074 1074 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1074 1074 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1074 1074 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1079 1079 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 P31327 UniProtKB Modified residue 1090 1090 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07756 P31327 UniProtKB Modified residue 1093 1093 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07756 P31327 UniProtKB Modified residue 1100 1100 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1100 1100 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1149 1149 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1150 1150 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1168 1168 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1168 1168 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1168 1168 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1183 1183 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1183 1183 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1183 1183 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1203 1203 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P31327 UniProtKB Modified residue 1222 1222 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1224 1224 . . . Note=N6-glutaryllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1232 1232 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1232 1232 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1269 1269 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1269 1269 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1291 1291 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1291 1291 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1356 1356 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1356 1356 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1356 1356 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1360 1360 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1360 1360 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1419 1419 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P31327 UniProtKB Modified residue 1431 1431 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P31327 UniProtKB Modified residue 1444 1444 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1444 1444 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1471 1471 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1471 1471 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1479 1479 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1479 1479 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1479 1479 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1486 1486 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Modified residue 1486 1486 . . . Note=N6-glutaryllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24703693;Dbxref=PMID:24703693 P31327 UniProtKB Modified residue 1486 1486 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C196 P31327 UniProtKB Glycosylation 537 537 . . . Note=O-linked (GlcNAc) serine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250 P31327 UniProtKB Glycosylation 1331 1331 . . . Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250 P31327 UniProtKB Glycosylation 1332 1332 . . . Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250 P31327 UniProtKB Alternative sequence 1 451 . . . ID=VSP_009332;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.4;Dbxref=PMID:14702039 P31327 UniProtKB Alternative sequence 1 1 . . . ID=VSP_046685;Note=In isoform 3. M->MPQIIKM;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.11 P31327 UniProtKB Natural variant 43 43 . . . ID=VAR_066171;Note=In CPS1D. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 58 58 . . . ID=VAR_066172;Note=In CPS1D. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 65 65 . . . ID=VAR_066173;Note=In CPS1D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs375979196,PMID:21120950 P31327 UniProtKB Natural variant 71 71 . . . ID=VAR_066174;Note=In CPS1D. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 79 79 . . . ID=VAR_063560;Note=In CPS1D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=dbSNP:rs1265394565,PMID:17310273 P31327 UniProtKB Natural variant 87 87 . . . ID=VAR_066175;Note=In CPS1D. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553509297,PMID:21120950 P31327 UniProtKB Natural variant 89 89 . . . ID=VAR_066176;Note=In CPS1D. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 123 123 . . . ID=VAR_064062;Note=In CPS1D%3B modestly decreases enzyme activity. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20578160;Dbxref=PMID:20578160 P31327 UniProtKB Natural variant 123 123 . . . ID=VAR_075404;Note=In CPS1D%3B uncertain significance. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26440671;Dbxref=PMID:26440671 P31327 UniProtKB Natural variant 165 165 . . . ID=VAR_066177;Note=In CPS1D. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 174 174 . . . ID=VAR_075405;Note=In CPS1D%3B uncertain significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26440671;Dbxref=dbSNP:rs1553509661,PMID:26440671 P31327 UniProtKB Natural variant 212 212 . . . ID=VAR_063561;Note=In CPS1D. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 224 224 . . . ID=VAR_066178;Note=In CPS1D. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 233 233 . . . ID=VAR_066179;Note=In CPS1D. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs767905306,PMID:21120950 P31327 UniProtKB Natural variant 243 243 . . . ID=VAR_066180;Note=In CPS1D. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs752902711,PMID:21120950 P31327 UniProtKB Natural variant 258 258 . . . ID=VAR_066181;Note=In CPS1D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 263 263 . . . ID=VAR_066182;Note=In CPS1D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1471393474,PMID:21120950 P31327 UniProtKB Natural variant 280 280 . . . ID=VAR_063562;Note=In CPS1D. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=dbSNP:rs753751183,PMID:17310273 P31327 UniProtKB Natural variant 301 301 . . . ID=VAR_066104;Note=In CPS1D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs973321068,PMID:16737834 P31327 UniProtKB Natural variant 304 304 . . . ID=VAR_066183;Note=In CPS1D%3B associated with T-986. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs775920437,PMID:21120950 P31327 UniProtKB Natural variant 317 317 . . . ID=VAR_066184;Note=In CPS1D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1273594946,PMID:21120950 P31327 UniProtKB Natural variant 337 337 . . . ID=VAR_014077;Note=In CPS1D%3B modestly decreases enzyme activity. H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11474210,ECO:0000269|PubMed:20578160;Dbxref=dbSNP:rs28940283,PMID:11474210,PMID:20578160 P31327 UniProtKB Natural variant 341 341 . . . ID=VAR_075806;Note=In CPS1D. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22173106;Dbxref=PMID:22173106 P31327 UniProtKB Natural variant 344 344 . . . ID=VAR_006834;Note=No negative effect on protein stability%2C enzyme activity and thermal stability. T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12853138,ECO:0000269|PubMed:23649895,ECO:0000269|PubMed:9711878,ECO:0000269|Ref.11;Dbxref=dbSNP:rs1047883,PMID:12853138,PMID:23649895,PMID:9711878 P31327 UniProtKB Natural variant 344 344 . . . ID=VAR_061752;Note=T->S;Dbxref=dbSNP:rs1047883 P31327 UniProtKB Natural variant 355 355 . . . ID=VAR_075406;Note=In CPS1D%3B around 80%25 decrease in enzyme activity%3B significant reduction in thermal stability%3B approximately 4-fold decrease in the apparent Vmax for ATP%2C bicarbonate and ammonia. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23649895;Dbxref=dbSNP:rs1472190012,PMID:23649895 P31327 UniProtKB Natural variant 358 358 . . . ID=VAR_066185;Note=In CPS1D. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs149930500,PMID:21120950 P31327 UniProtKB Natural variant 382 382 . . . ID=VAR_066186;Note=In CPS1D. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs201407486,PMID:21120950 P31327 UniProtKB Natural variant 389 389 . . . ID=VAR_066105;Note=In CPS1D%3B around 40%25 decrease in enzyme activity%3B significant loss of thermal stability. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:23649895;Dbxref=PMID:16737834,PMID:23649895 P31327 UniProtKB Natural variant 390 390 . . . ID=VAR_066106;Note=In CPS1D%3B significant loss of protein stability. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:23649895;Dbxref=PMID:16737834,PMID:23649895 P31327 UniProtKB Natural variant 401 401 . . . ID=VAR_066187;Note=In CPS1D%3B uncertain significance%3B associated with N-937 in a patient. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs760895692,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 431 431 . . . ID=VAR_066188;Note=In CPS1D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs778766382,PMID:21120950 P31327 UniProtKB Natural variant 432 432 . . . ID=VAR_066189;Note=In CPS1D. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 438 438 . . . ID=VAR_063563;Note=In CPS1D%3B almost complete loss of enzyme activity. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17310273,ECO:0000269|PubMed:23649895;Dbxref=dbSNP:rs772497399,PMID:17310273,PMID:23649895 P31327 UniProtKB Natural variant 438 438 . . . ID=VAR_066190;Note=In CPS1D. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs772497399,PMID:21120950 P31327 UniProtKB Natural variant 450 450 . . . ID=VAR_066191;Note=In CPS1D. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 457 457 . . . ID=VAR_017562;Note=In CPS1D. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12955727;Dbxref=dbSNP:rs371350538,PMID:12955727 P31327 UniProtKB Natural variant 471 471 . . . ID=VAR_064063;Note=In CPS1D. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20578160;Dbxref=PMID:20578160 P31327 UniProtKB Natural variant 498 498 . . . ID=VAR_066192;Note=In CPS1D. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 530 530 . . . ID=VAR_070211;Note=Found in a patient with VACTERL syndrome and postsurgical PHN%3B uncertain significance. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21767969;Dbxref=dbSNP:rs1250316045,PMID:21767969 P31327 UniProtKB Natural variant 531 531 . . . ID=VAR_066193;Note=In CPS1D. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 531 531 . . . ID=VAR_066194;Note=In CPS1D. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 544 544 . . . ID=VAR_006835;Note=In CPS1D%3B almost complete loss of enzyme activity%3B approximately 60-fold increase in the apparent Km for bicarbonate and approximately 4-fold respective decrease and increase in the apparent Vmax and Km for ammonia. T->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:23649895,ECO:0000269|PubMed:9711878;Dbxref=dbSNP:rs121912592,PMID:21120950,PMID:23649895,PMID:9711878 P31327 UniProtKB Natural variant 587 587 . . . ID=VAR_066195;Note=In CPS1D. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1242028775,PMID:21120950 P31327 UniProtKB Natural variant 587 587 . . . ID=VAR_063564;Note=In CPS1D. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17310273,ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553512642,PMID:17310273,PMID:21120950 P31327 UniProtKB Natural variant 587 587 . . . ID=VAR_066196;Note=In CPS1D. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 589 589 . . . ID=VAR_066142;Note=In CPS1D. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs777233486,PMID:16737834 P31327 UniProtKB Natural variant 593 593 . . . ID=VAR_063565;Note=In CPS1D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=dbSNP:rs1048119191,PMID:17310273 P31327 UniProtKB Natural variant 597 597 . . . ID=VAR_066197;Note=In CPS1D. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 622 622 . . . ID=VAR_066198;Note=In CPS1D. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553512962,PMID:21120950 P31327 UniProtKB Natural variant 628 628 . . . ID=VAR_066199;Note=In CPS1D. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1275599086,PMID:21120950 P31327 UniProtKB Natural variant 632 632 . . . ID=VAR_066200;Note=In CPS1D. I->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs1553512974,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 638 638 . . . ID=VAR_066201;Note=In CPS1D. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs757205958,PMID:21120950 P31327 UniProtKB Natural variant 640 640 . . . ID=VAR_066143;Note=In CPS1D. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs142693704,PMID:16737834 P31327 UniProtKB Natural variant 648 648 . . . ID=VAR_066202;Note=In CPS1D. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 651 651 . . . ID=VAR_063566;Note=In CPS1D. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 654 654 . . . ID=VAR_066203;Note=In CPS1D. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 661 661 . . . ID=VAR_075807;Note=In CPS1D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22173106;Dbxref=PMID:22173106 P31327 UniProtKB Natural variant 674 674 . . . ID=VAR_063567;Note=In CPS1D. N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 674 674 . . . ID=VAR_066204;Note=In CPS1D. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1248368809,PMID:21120950 P31327 UniProtKB Natural variant 678 678 . . . ID=VAR_064064;Note=In CPS1D%3B results in a poor enzyme expression and solubility%3B hampers correct enzyme folding. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20578160;Dbxref=PMID:20578160 P31327 UniProtKB Natural variant 698 698 . . . ID=VAR_066205;Note=In CPS1D. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 716 716 . . . ID=VAR_066144;Note=In CPS1D. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs369061090,PMID:16737834 P31327 UniProtKB Natural variant 718 718 . . . ID=VAR_066107;Note=In CPS1D. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 721 721 . . . ID=VAR_066108;Note=In CPS1D. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs752339705,PMID:21120950 P31327 UniProtKB Natural variant 724 724 . . . ID=VAR_066109;Note=In CPS1D. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 726 726 . . . ID=VAR_066110;Note=In CPS1D. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 767 767 . . . ID=VAR_066111;Note=In CPS1D. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 774 774 . . . ID=VAR_064065;Note=In CPS1D%3B the enzyme is inactive. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20578160;Dbxref=PMID:20578160 P31327 UniProtKB Natural variant 780 780 . . . ID=VAR_063568;Note=In CPS1D. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17310273,ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs758724746,PMID:17310273,PMID:21120950 P31327 UniProtKB Natural variant 792 792 . . . ID=VAR_066112;Note=In CPS1D. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553513429,PMID:21120950 P31327 UniProtKB Natural variant 803 803 . . . ID=VAR_066145;Note=In CPS1D. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs201716417,PMID:21120950 P31327 UniProtKB Natural variant 803 803 . . . ID=VAR_066146;Note=In CPS1D. R->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:26440671;Dbxref=dbSNP:rs201716417,PMID:21120950,PMID:26440671 P31327 UniProtKB Natural variant 803 803 . . . ID=VAR_066147;Note=In CPS1D. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs201716417,PMID:21120950 P31327 UniProtKB Natural variant 805 805 . . . ID=VAR_066148;Note=In CPS1D. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs1553513861,PMID:16737834 P31327 UniProtKB Natural variant 805 805 . . . ID=VAR_066149;Note=In CPS1D. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 810 810 . . . ID=VAR_017563;Note=In CPS1D. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12955727;Dbxref=dbSNP:rs1553513864,PMID:12955727 P31327 UniProtKB Natural variant 814 814 . . . ID=VAR_066150;Note=In CPS1D. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs772782772,PMID:21120950 P31327 UniProtKB Natural variant 816 816 . . . ID=VAR_066151;Note=In CPS1D. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553513870,PMID:21120950 P31327 UniProtKB Natural variant 843 843 . . . ID=VAR_017564;Note=In CPS1D%3B associated in cis with E-875%3B causes 70%25 decrease of enzyme activity%3B significant decrease in protein yield. L->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12655559,ECO:0000269|PubMed:15164414,ECO:0000269|PubMed:24813853;Dbxref=PMID:12655559,PMID:15164414,PMID:24813853 P31327 UniProtKB Natural variant 850 850 . . . ID=VAR_063569;Note=In CPS1D%3B moderate decrease in protein yield and partial loss of enzyme activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17310273,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs1015051007,PMID:17310273,PMID:24813853 P31327 UniProtKB Natural variant 850 850 . . . ID=VAR_030675;Note=In CPS1D%3B partial loss of enzyme activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15617192,ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853,ECO:0000269|PubMed:26440671;Dbxref=dbSNP:rs767694281,PMID:15617192,PMID:21120950,PMID:24813853,PMID:26440671 P31327 UniProtKB Natural variant 871 871 . . . ID=VAR_075407;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24813853;Dbxref=PMID:24813853 P31327 UniProtKB Natural variant 875 875 . . . ID=VAR_017565;Note=Associated in cis with S-843 in a patient with carbamoyl-phosphate synthase deficiency%3B does not affect enzyme activity%3B significant decrease in protein yield and thermal stability. K->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12655559,ECO:0000269|PubMed:15164414,ECO:0000269|PubMed:24813853,ECO:0000269|PubMed:27535533;Dbxref=dbSNP:rs147062907,PMID:12655559,PMID:15164414,PMID:24813853,PMID:27535533 P31327 UniProtKB Natural variant 911 911 . . . ID=VAR_066152;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs1388955593,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 911 911 . . . ID=VAR_066153;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:24813853;Dbxref=PMID:16737834,PMID:24813853 P31327 UniProtKB Natural variant 913 913 . . . ID=VAR_066154;Note=In CPS1D%3B significant decrease in protein yield and partial loss of enzyme activity. S->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs754706559,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 914 914 . . . ID=VAR_066155;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 914 914 . . . ID=VAR_066156;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs765484849,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 918 918 . . . ID=VAR_030676;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15617192,ECO:0000269|PubMed:24813853;Dbxref=PMID:15617192,PMID:24813853 P31327 UniProtKB Natural variant 932 932 . . . ID=VAR_066157;Note=In CPS1D%3B significant decrease in protein yield and partial loss of enzyme activity. R->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 937 937 . . . ID=VAR_075408;Note=In CPS1D%3B associated with R-401%3B significant decrease in protein yield and enzyme activity. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs760714614,PMID:24813853 P31327 UniProtKB Natural variant 949 949 . . . ID=VAR_066158;Note=In CPS1D%3B partial loss of enzyme activity and significant decrease in thermal stability. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs537170841,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 958 958 . . . ID=VAR_066159;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:24813853;Dbxref=PMID:16737834,PMID:24813853 P31327 UniProtKB Natural variant 959 959 . . . ID=VAR_066160;Note=In CPS1D%3B significant decrease in protein yield and thermal stability%3B partial loss of enzyme activity. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs1191587211,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 962 962 . . . ID=VAR_066161;Note=In CPS1D%3B significant decrease in protein yield and partial loss of enzyme activity. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs955666400,PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 964 964 . . . ID=VAR_075409;Note=In CPS1D%3B significant decrease in protein yield and enzyme activity. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22173106,ECO:0000269|PubMed:24813853;Dbxref=dbSNP:rs534815243,PMID:22173106,PMID:24813853 P31327 UniProtKB Natural variant 978 978 . . . ID=VAR_066113;Note=In CPS1D. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 982 982 . . . ID=VAR_063570;Note=In CPS1D. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=dbSNP:rs121912595,PMID:17310273 P31327 UniProtKB Natural variant 982 982 . . . ID=VAR_066162;Note=In CPS1D. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs757059355,PMID:16737834 P31327 UniProtKB Natural variant 982 982 . . . ID=VAR_066114;Note=In CPS1D. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs121912595,PMID:21120950 P31327 UniProtKB Natural variant 984 984 . . . ID=VAR_066115;Note=In CPS1D. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 986 986 . . . ID=VAR_066116;Note=In CPS1D%3B associated with V-304. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553516442,PMID:21120950 P31327 UniProtKB Natural variant 987 987 . . . ID=VAR_066117;Note=In CPS1D%3B may affect splicing. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1553516443,PMID:21120950 P31327 UniProtKB Natural variant 992 992 . . . ID=VAR_066118;Note=In CPS1D. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs990390709,PMID:21120950 P31327 UniProtKB Natural variant 998 998 . . . ID=VAR_066163;Note=In CPS1D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs1404696893,PMID:16737834 P31327 UniProtKB Natural variant 1016 1016 . . . ID=VAR_066119;Note=In CPS1D. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs749238466,PMID:21120950 P31327 UniProtKB Natural variant 1017 1017 . . . ID=VAR_066120;Note=In CPS1D. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1022 1022 . . . ID=VAR_066121;Note=In CPS1D. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1437651658,PMID:21120950 P31327 UniProtKB Natural variant 1034 1034 . . . ID=VAR_066122;Note=In CPS1D. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1045 1045 . . . ID=VAR_066123;Note=In CPS1D. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1241423400,PMID:21120950 P31327 UniProtKB Natural variant 1054 1054 . . . ID=VAR_066164;Note=In CPS1D. I->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11388595;Dbxref=PMID:11388595 P31327 UniProtKB Natural variant 1059 1059 . . . ID=VAR_066124;Note=In CPS1D. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1065 1065 . . . ID=VAR_066125;Note=In CPS1D. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs770471782,PMID:21120950 P31327 UniProtKB Natural variant 1089 1089 . . . ID=VAR_066126;Note=In CPS1D. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1392559810,PMID:21120950 P31327 UniProtKB Natural variant 1089 1089 . . . ID=VAR_066165;Note=In CPS1D. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs1280211937,PMID:16737834 P31327 UniProtKB Natural variant 1103 1103 . . . ID=VAR_063571;Note=In CPS1D. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 1141 1141 . . . ID=VAR_063572;Note=In CPS1D. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 1155 1155 . . . ID=VAR_066127;Note=In CPS1D. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1155 1155 . . . ID=VAR_066128;Note=In CPS1D. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs766125631,PMID:21120950 P31327 UniProtKB Natural variant 1167 1167 . . . ID=VAR_075808;Note=In CPS1D. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22173106;Dbxref=PMID:22173106 P31327 UniProtKB Natural variant 1194 1194 . . . ID=VAR_075410;Note=In CPS1D. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24813853;Dbxref=PMID:24813853 P31327 UniProtKB Natural variant 1195 1195 . . . ID=VAR_063573;Note=In CPS1D. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 1203 1203 . . . ID=VAR_066129;Note=In CPS1D. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs149518280,PMID:21120950 P31327 UniProtKB Natural variant 1203 1203 . . . ID=VAR_066166;Note=In CPS1D. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=dbSNP:rs1319489001,PMID:16737834 P31327 UniProtKB Natural variant 1205 1205 . . . ID=VAR_066167;Note=In CPS1D. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=PMID:16737834 P31327 UniProtKB Natural variant 1215 1215 . . . ID=VAR_063574;Note=In CPS1D%3B uncertain significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=dbSNP:rs141373204,PMID:17310273 P31327 UniProtKB Natural variant 1228 1228 . . . ID=VAR_066130;Note=In CPS1D. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs778117194,PMID:21120950 P31327 UniProtKB Natural variant 1241 1241 . . . ID=VAR_063575;Note=In CPS1D. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17310273;Dbxref=PMID:17310273 P31327 UniProtKB Natural variant 1254 1254 . . . ID=VAR_075411;Note=In CPS1D%3B uncertain significance. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26440671;Dbxref=PMID:26440671 P31327 UniProtKB Natural variant 1255 1255 . . . ID=VAR_066131;Note=In CPS1D. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1262 1262 . . . ID=VAR_066132;Note=In CPS1D. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1262 1262 . . . ID=VAR_066133;Note=In CPS1D. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs750670270,PMID:21120950 P31327 UniProtKB Natural variant 1266 1266 . . . ID=VAR_017566;Note=F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1840546;Dbxref=dbSNP:rs1047886,PMID:1840546 P31327 UniProtKB Natural variant 1274 1274 . . . ID=VAR_066134;Note=In CPS1D. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1283 1283 . . . ID=VAR_017567;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1840546;Dbxref=dbSNP:rs1047887,PMID:1840546 P31327 UniProtKB Natural variant 1327 1327 . . . ID=VAR_066135;Note=In CPS1D. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1331 1331 . . . ID=VAR_066168;Note=In CPS1D. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16737834;Dbxref=PMID:16737834 P31327 UniProtKB Natural variant 1333 1333 . . . ID=VAR_066136;Note=In CPS1D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs372645328,PMID:21120950 P31327 UniProtKB Natural variant 1363 1366 . . . ID=VAR_075412;Note=In CPS1D%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26440671;Dbxref=PMID:26440671 P31327 UniProtKB Natural variant 1371 1371 . . . ID=VAR_066137;Note=In CPS1D. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1376 1376 . . . ID=VAR_017568;Note=No functional consequences%3B no negative effect on protein stability%2C enzyme activity and thermal stability. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12853138,ECO:0000269|PubMed:20578160,ECO:0000269|PubMed:23649895;Dbxref=dbSNP:rs140578009,PMID:12853138,PMID:20578160,PMID:23649895 P31327 UniProtKB Natural variant 1378 1378 . . . ID=VAR_066169;Note=In CPS1D%3B significant reduction in thermal stability. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:23649895;Dbxref=dbSNP:rs1245373037,PMID:16737834,PMID:23649895 P31327 UniProtKB Natural variant 1381 1381 . . . ID=VAR_075413;Note=In CPS1D%3B significant loss of protein stability. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23649895;Dbxref=PMID:23649895 P31327 UniProtKB Natural variant 1391 1391 . . . ID=VAR_066138;Note=In CPS1D. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs1392934477,PMID:21120950 P31327 UniProtKB Natural variant 1398 1398 . . . ID=VAR_066139;Note=In CPS1D. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1406 1406 . . . ID=VAR_017569;Note=Probable risk factor for PHN. T->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11407344,ECO:0000269|PubMed:12853138,ECO:0000269|PubMed:12955727,ECO:0000269|PubMed:1840546,ECO:0000269|PubMed:20520828,ECO:0000269|PubMed:21767969,ECO:0000269|PubMed:24237036;Dbxref=dbSNP:rs1047891,PMID:11407344,PMID:12853138,PMID:12955727,PMID:1840546,PMID:20520828,PMID:21767969,PMID:24237036 P31327 UniProtKB Natural variant 1411 1411 . . . ID=VAR_064066;Note=In CPS1D%3B modestly decreases enzyme activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:20578160;Dbxref=dbSNP:rs1202306773,PMID:16737834,PMID:20578160 P31327 UniProtKB Natural variant 1439 1439 . . . ID=VAR_066140;Note=In CPS1D. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21120950;Dbxref=PMID:21120950 P31327 UniProtKB Natural variant 1443 1443 . . . ID=VAR_066170;Note=In CPS1D%3B almost complete loss of enzyme activity%3B approximately 10-fold decrease in the apparent Vmax for bicarbonate%2C ammonia and ATP%3B decreased affinity for NAG. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16737834,ECO:0000269|PubMed:23649895;Dbxref=PMID:16737834,PMID:23649895 P31327 UniProtKB Natural variant 1453 1453 . . . ID=VAR_064067;Note=In CPS1D%3B the enzyme is inactive. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20578160;Dbxref=PMID:20578160 P31327 UniProtKB Natural variant 1453 1453 . . . ID=VAR_064068;Note=In CPS1D%3B the enzyme is inactive. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20578160,ECO:0000269|PubMed:21120950;Dbxref=dbSNP:rs933813349,PMID:20578160,PMID:21120950 P31327 UniProtKB Natural variant 1462 1462 . . . ID=VAR_066141;Note=In CPS1D. P->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21120950,ECO:0000269|PubMed:24813853;Dbxref=PMID:21120950,PMID:24813853 P31327 UniProtKB Natural variant 1491 1491 . . . ID=VAR_064069;Note=In CPS1D%3B triggers a large decrease in the apparent affinity for N-acetyl-L-glutamate (NAG). Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20578160;Dbxref=dbSNP:rs1553519513,PMID:20578160 P31327 UniProtKB Sequence conflict 111 111 . . . Note=A->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 279 279 . . . Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 338 338 . . . Note=G->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 718 722 . . . Note=RLSRS->KMSPN;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 729 729 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 749 749 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 912 912 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 1161 1162 . . . Note=EH->AT;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 1204 1205 . . . Note=GD->EN;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 1254 1254 . . . Note=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Sequence conflict 1303 1303 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P31327 UniProtKB Beta strand 45 50 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 55 60 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 67 74 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 80 84 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 87 89 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 92 101 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 116 120 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 122 125 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 128 132 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 134 136 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 149 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 160 163 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 166 173 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 179 184 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 195 197 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 200 204 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 210 213 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 217 226 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 229 237 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 240 245 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 257 263 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 268 270 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 272 283 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 290 294 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 295 304 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 308 324 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 325 327 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 330 341 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 349 351 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 353 355 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 356 358 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 363 376 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 381 383 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 389 399 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 405 408 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 423 428 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 435 437 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Helix 445 454 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 458 462 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 469 471 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 473 475 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Beta strand 480 483 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 489 499 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 502 505 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 507 509 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 510 522 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 525 529 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 538 545 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 547 555 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 556 558 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 563 569 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Helix 570 580 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Beta strand 582 590 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Turn 593 596 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Beta strand 598 602 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Helix 603 614 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Beta strand 620 624 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Beta strand 629 638 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 644 655 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 660 662 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOU P31327 UniProtKB Beta strand 663 668 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 674 690 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 695 703 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 710 716 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 721 730 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 734 742 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 747 749 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 753 755 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 756 762 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 767 777 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 794 804 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 805 816 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 828 830 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Helix 839 844 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 850 859 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 864 871 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 875 892 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 896 898 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 901 909 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 914 921 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 925 934 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 940 943 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 957 963 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 976 979 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 991 1005 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1010 1014 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 1024 1026 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1027 1032 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1037 1047 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1050 1053 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1055 1057 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1059 1063 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1065 1070 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1080 1087 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1089 1098 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1106 1111 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1112 1121 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1126 1129 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Beta strand 1140 1142 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Helix 1145 1151 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Beta strand 1164 1168 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1174 1183 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1186 1197 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1199 1201 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6W2J P31327 UniProtKB Beta strand 1203 1205 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1208 1211 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1217 1233 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1238 1247 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1250 1259 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1264 1271 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1275 1284 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1296 1298 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1306 1310 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1312 1319 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1321 1324 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1326 1332 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1335 1341 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1342 1352 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1360 1365 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1368 1370 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1371 1383 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1387 1391 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1392 1400 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1406 1408 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1411 1413 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1418 1421 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Helix 1423 1428 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Beta strand 1434 1437 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1443 1445 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YVQ P31327 UniProtKB Helix 1446 1459 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Helix 1467 1479 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UEL P31327 UniProtKB Turn 1486 1491 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5DOT P31327 UniProtKB Sequence conflict 5 5 . . . Note=I->IF;Ontology_term=ECO:0000305;evidence=ECO:0000305