##gff-version 3 P00480 UniProtKB Transit peptide 1 32 . . . Note=Mitochondrion;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6372096;Dbxref=PMID:6372096 P00480 UniProtKB Chain 33 354 . . . ID=PRO_0000020334;Note=Ornithine transcarbamylase%2C mitochondrial P00480 UniProtKB Active site 303 303 . . . Note=Proton acceptor;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:10813810;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 90 93 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 141 141 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 168 168 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 171 171 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 199 199 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 263 263 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 267 267 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 268 268 . . . Ontology_term=ECO:0000305,ECO:0007744;evidence=ECO:0000305|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 303 304 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Binding site 330 330 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:10813810,ECO:0007744|PDB:1C9Y;Dbxref=PMID:10813810 P00480 UniProtKB Modified residue 70 70 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 70 70 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 80 80 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 88 88 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19318352;Dbxref=PMID:19318352 P00480 UniProtKB Modified residue 88 88 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 133 133 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P00480 UniProtKB Modified residue 144 144 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 144 144 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 221 221 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 221 221 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 231 231 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 231 231 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 238 238 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 238 238 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 243 243 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 274 274 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 289 289 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 292 292 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 292 292 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 307 307 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Modified residue 307 307 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11725 P00480 UniProtKB Natural variant 26 26 . . . ID=VAR_004843;Note=In OTCD. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2474822;Dbxref=dbSNP:rs68031618,PMID:2474822 P00480 UniProtKB Natural variant 39 39 . . . ID=VAR_004844;Note=In OTCD%3B late onset. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452049;Dbxref=dbSNP:rs72554306,PMID:9452049 P00480 UniProtKB Natural variant 40 40 . . . ID=VAR_004845;Note=In OTCD%3B late onset. R->C;Dbxref=dbSNP:rs72554307 P00480 UniProtKB Natural variant 40 40 . . . ID=VAR_004846;Note=In OTCD%3B late onset. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7951259,ECO:0000269|Ref.32;Dbxref=dbSNP:rs72554308,PMID:7951259 P00480 UniProtKB Natural variant 43 43 . . . ID=VAR_004847;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9143919;Dbxref=dbSNP:rs72554309,PMID:9143919 P00480 UniProtKB Natural variant 44 44 . . . ID=VAR_004848;Note=In OTCD. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8830175;Dbxref=dbSNP:rs72554310,PMID:8830175 P00480 UniProtKB Natural variant 45 45 . . . ID=VAR_004849;Note=In OTCD. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2474822;Dbxref=dbSNP:rs72554312,PMID:2474822 P00480 UniProtKB Natural variant 45 45 . . . ID=VAR_004850;Note=In OTCD. L->V;Dbxref=dbSNP:rs72554311 P00480 UniProtKB Natural variant 46 46 . . . ID=VAR_004851;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:2474822;Dbxref=dbSNP:rs1800321,PMID:15489334,PMID:2474822 P00480 UniProtKB Natural variant 47 47 . . . ID=VAR_004852;Note=In OTCD%3B neonatal. N->I;Dbxref=dbSNP:rs67939655 P00480 UniProtKB Natural variant 50 50 . . . ID=VAR_004853;Note=In OTCD%3B late onset. G->R;Dbxref=dbSNP:rs67486158 P00480 UniProtKB Natural variant 55 55 . . . ID=VAR_004854;Note=In OTCD%3B late onset. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452065;Dbxref=dbSNP:rs72554319,PMID:9452065 P00480 UniProtKB Natural variant 56 56 . . . ID=VAR_004855;Note=In OTCD%3B late onset. M->T;Dbxref=dbSNP:rs72554320 P00480 UniProtKB Natural variant 60 60 . . . ID=VAR_004856;Note=In OTCD. S->L;Dbxref=dbSNP:rs72554323 P00480 UniProtKB Natural variant 63 63 . . . ID=VAR_004857;Note=In OTCD%3B late onset. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9143919;Dbxref=dbSNP:rs72554324,PMID:9143919 P00480 UniProtKB Natural variant 79 79 . . . ID=VAR_004858;Note=In OTCD. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1480464;Dbxref=dbSNP:rs72554331,PMID:1480464 P00480 UniProtKB Natural variant 82 82 . . . ID=VAR_004859;Note=In OTCD. Missing P00480 UniProtKB Natural variant 83 83 . . . ID=VAR_004860;Note=In OTCD. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.43;Dbxref=dbSNP:rs72554337 P00480 UniProtKB Natural variant 83 83 . . . ID=VAR_004861;Note=In OTCD%3B neonatal. G->R;Dbxref=dbSNP:rs72554336 P00480 UniProtKB Natural variant 87 87 . . . ID=VAR_004862;Note=In OTCD. E->K;Dbxref=dbSNP:rs72554338 P00480 UniProtKB Natural variant 88 88 . . . ID=VAR_004863;Note=In OTCD%3B late onset. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956038,ECO:0000269|Ref.32;Dbxref=dbSNP:rs72554339,PMID:8956038 P00480 UniProtKB Natural variant 90 90 . . . ID=VAR_004864;Note=In OTCD. S->R;Dbxref=dbSNP:rs72554342 P00480 UniProtKB Natural variant 92 92 . . . ID=VAR_004865;Note=In OTCD. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1671317;Dbxref=dbSNP:rs66550389,PMID:1671317 P00480 UniProtKB Natural variant 93 93 . . . ID=VAR_004866;Note=In OTCD%3B late onset. T->A;Dbxref=dbSNP:rs72554344 P00480 UniProtKB Natural variant 94 94 . . . ID=VAR_004867;Note=In OTCD. R->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1480464;Dbxref=dbSNP:rs72554345,PMID:1480464 P00480 UniProtKB Natural variant 100 100 . . . ID=VAR_004868;Note=In OTCD%3B late onset. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9143919;Dbxref=dbSNP:rs72554349,PMID:9143919 P00480 UniProtKB Natural variant 101 101 . . . ID=VAR_004869;Note=F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2836378,ECO:0000269|PubMed:8830175;Dbxref=dbSNP:rs1133135,PMID:2836378,PMID:8830175 P00480 UniProtKB Natural variant 102 102 . . . ID=VAR_004870;Note=In OTCD. A->E;Dbxref=dbSNP:rs72554350 P00480 UniProtKB Natural variant 111 111 . . . ID=VAR_004871;Note=L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1671317,ECO:0000269|PubMed:6372096;Dbxref=dbSNP:rs1800324,PMID:1671317,PMID:6372096 P00480 UniProtKB Natural variant 117 117 . . . ID=VAR_004872;Note=In OTCD. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8019569;Dbxref=dbSNP:rs66539573,PMID:8019569 P00480 UniProtKB Natural variant 117 117 . . . ID=VAR_004873;Note=In OTCD%3B late onset. H->R;Dbxref=dbSNP:rs66539573 P00480 UniProtKB Natural variant 125 125 . . . ID=VAR_004874;Note=In OTCD%3B neonatal. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8807340;Dbxref=dbSNP:rs72554356,PMID:8807340 P00480 UniProtKB Natural variant 126 126 . . . ID=VAR_004875;Note=In OTCD%3B early onset%3B loss of ornithine carbamoyltransferase activity%3B 0.9%25 of wild-type activity. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8081398;Dbxref=dbSNP:rs72554358,PMID:8081398 P00480 UniProtKB Natural variant 129 129 . . . ID=VAR_004876;Note=In OTCD%3B early onset%3B decreased ornithine carbamoyltransferase activity%3B 2.1%25 of wild-type activity. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7951259,ECO:0000269|PubMed:8081398;Dbxref=dbSNP:rs66656800,PMID:7951259,PMID:8081398 P00480 UniProtKB Natural variant 139 139 . . . ID=VAR_004877;Note=In OTCD. L->S;Dbxref=dbSNP:rs72556259 P00480 UniProtKB Natural variant 140 140 . . . ID=VAR_010605;Note=In OTCD%3B late onset. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8099056;Dbxref=dbSNP:rs72556260,PMID:8099056 P00480 UniProtKB Natural variant 141 141 . . . ID=VAR_004878;Note=In OTCD. R->P;Dbxref=dbSNP:rs68026851 P00480 UniProtKB Natural variant 141 141 . . . ID=VAR_004879;Note=In OTCD%3B most common variant%3B loss of ornithine carbamoyltransferase activity%3B activity is 100-fold lower. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2556444,ECO:0000269|PubMed:3170748,ECO:0000269|PubMed:8830175;Dbxref=dbSNP:rs68026851,PMID:2556444,PMID:3170748,PMID:8830175 P00480 UniProtKB Natural variant 148 148 . . . ID=VAR_004880;Note=In OTCD. L->F;Dbxref=dbSNP:rs66741318 P00480 UniProtKB Natural variant 159 159 . . . ID=VAR_004881;Note=In OTCD. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8530002;Dbxref=dbSNP:rs72556269,PMID:8530002 P00480 UniProtKB Natural variant 160 160 . . . ID=VAR_012651;Note=In OTCD. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=dbSNP:rs67954347,PMID:11793483 P00480 UniProtKB Natural variant 161 161 . . . ID=VAR_004882;Note=In OTCD. N->S;Dbxref=dbSNP:rs72556271 P00480 UniProtKB Natural variant 162 162 . . . ID=VAR_004883;Note=In OTCD. G->R;Dbxref=dbSNP:rs66626662 P00480 UniProtKB Natural variant 168 168 . . . ID=VAR_004884;Note=In OTCD%3B late onset. H->Q;Dbxref=dbSNP:rs72556276 P00480 UniProtKB Natural variant 168 168 . . . ID=VAR_004885;Note=In OTCD%3B late onset. H->R;Dbxref=dbSNP:rs66867430 P00480 UniProtKB Natural variant 172 172 . . . ID=VAR_009233;Note=In OTCD. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10502831;Dbxref=dbSNP:rs72556279,PMID:10502831 P00480 UniProtKB Natural variant 172 172 . . . ID=VAR_004886;Note=In OTCD%3B early onset%3B loss of ornithine carbamoyltransferase activity. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8081398;Dbxref=dbSNP:rs72556280,PMID:8081398 P00480 UniProtKB Natural variant 174 174 . . . ID=VAR_004887;Note=In OTCD. A->P;Dbxref=dbSNP:rs72556281 P00480 UniProtKB Natural variant 175 175 . . . ID=VAR_004888;Note=In OTCD. D->V;Dbxref=dbSNP:rs68033093 P00480 UniProtKB Natural variant 176 176 . . . ID=VAR_004889;Note=In OTCD%3B late onset. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956038;Dbxref=dbSNP:rs72556283,PMID:8956038 P00480 UniProtKB Natural variant 178 179 . . . ID=VAR_004891;Note=In OTCD%3B neonatal. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452024;Dbxref=PMID:9452024 P00480 UniProtKB Natural variant 178 178 . . . ID=VAR_004890;Note=In OTCD%3B neonatal. T->M;Dbxref=dbSNP:rs72556284 P00480 UniProtKB Natural variant 180 180 . . . ID=VAR_004892;Note=In OTCD. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452024;Dbxref=dbSNP:rs72556287,PMID:9452024 P00480 UniProtKB Natural variant 181 181 . . . ID=VAR_004893;Note=In OTCD%3B neonatal. E->G;Dbxref=dbSNP:rs72556290 P00480 UniProtKB Natural variant 182 182 . . . ID=VAR_004894;Note=In OTCD. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8019569;Dbxref=dbSNP:rs72556291,PMID:8019569 P00480 UniProtKB Natural variant 183 183 . . . ID=VAR_004895;Note=In OTCD. Y->C;Dbxref=dbSNP:rs72556293 P00480 UniProtKB Natural variant 183 183 . . . ID=VAR_004896;Note=In OTCD%3B late onset. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9143919;Dbxref=dbSNP:rs72556292,PMID:9143919 P00480 UniProtKB Natural variant 188 188 . . . ID=VAR_004897;Note=In OTCD%3B neonatal. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8807340;Dbxref=dbSNP:rs72556294,PMID:8807340 P00480 UniProtKB Natural variant 188 188 . . . ID=VAR_009234;Note=In OTCD. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10502831;Dbxref=dbSNP:rs72556295,PMID:10502831 P00480 UniProtKB Natural variant 191 191 . . . ID=VAR_012652;Note=In OTCD. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=dbSNP:rs72556296,PMID:11793483 P00480 UniProtKB Natural variant 192 192 . . . ID=VAR_004898;Note=In OTCD%3B neonatal. S->R;Dbxref=dbSNP:rs72556298 P00480 UniProtKB Natural variant 195 195 . . . ID=VAR_004899;Note=In OTCD%3B loss of ornithine carbamoyltransferase activity. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7951259,ECO:0000269|PubMed:8112735;Dbxref=dbSNP:rs67294955,PMID:7951259,PMID:8112735 P00480 UniProtKB Natural variant 196 196 . . . ID=VAR_004900;Note=In OTCD%3B neonatal%3B decreased ornithine carbamoyltransferase activity%3B 3.7%25 activity. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8112735;Dbxref=dbSNP:rs72556300,PMID:8112735 P00480 UniProtKB Natural variant 196 196 . . . ID=VAR_004901;Note=In OTCD%3B neonatal. D->Y;Dbxref=dbSNP:rs66642398 P00480 UniProtKB Natural variant 197 197 . . . ID=VAR_004902;Note=In OTCD. G->E;Dbxref=dbSNP:rs72556302 P00480 UniProtKB Natural variant 197 197 . . . ID=VAR_009235;Note=In OTCD. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10502831;Dbxref=dbSNP:rs72556301,PMID:10502831 P00480 UniProtKB Natural variant 198 198 . . . ID=VAR_010606;Note=In OTCD. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10070627;Dbxref=dbSNP:rs72558404,PMID:10070627 P00480 UniProtKB Natural variant 201 201 . . . ID=VAR_004903;Note=In OTCD%3B neonatal. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452024;Dbxref=dbSNP:rs72558407,PMID:9452024 P00480 UniProtKB Natural variant 202 202 . . . ID=VAR_004904;Note=In OTCD. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.32;Dbxref=dbSNP:rs72558408 P00480 UniProtKB Natural variant 203 203 . . . ID=VAR_004905;Note=In OTCD. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8019569;Dbxref=dbSNP:rs72558410,PMID:8019569 P00480 UniProtKB Natural variant 206 206 . . . ID=VAR_012653;Note=In OTCD. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=dbSNP:rs72558413,PMID:11793483 P00480 UniProtKB Natural variant 206 206 . . . ID=VAR_004906;Note=In OTCD%3B neonatal. M->R;Dbxref=dbSNP:rs72558412 P00480 UniProtKB Natural variant 207 207 . . . ID=VAR_004907;Note=In OTCD%3B neonatal. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452024;Dbxref=dbSNP:rs72558415,PMID:9452024 P00480 UniProtKB Natural variant 208 208 . . . ID=VAR_004908;Note=In OTCD%3B late onset. A->T;Dbxref=dbSNP:rs72558416 P00480 UniProtKB Natural variant 209 209 . . . ID=VAR_004909;Note=In OTCD%3B neonatal. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10070627,ECO:0000269|PubMed:8530002,ECO:0000269|PubMed:8807340;Dbxref=dbSNP:rs72558417,PMID:10070627,PMID:8530002,PMID:8807340 P00480 UniProtKB Natural variant 213 213 . . . ID=VAR_004910;Note=In OTCD%3B late onset. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9143919;Dbxref=PMID:9143919 P00480 UniProtKB Natural variant 214 214 . . . ID=VAR_010607;Note=In OTCD%3B neonatal. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8830175;Dbxref=dbSNP:rs72558420,PMID:8830175 P00480 UniProtKB Natural variant 216 216 . . . ID=VAR_004911;Note=In OTCD. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2474822;Dbxref=dbSNP:rs72558423,PMID:2474822 P00480 UniProtKB Natural variant 220 220 . . . ID=VAR_004912;Note=In OTCD%3B late onset. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956038;Dbxref=dbSNP:rs72558425,PMID:8956038 P00480 UniProtKB Natural variant 225 225 . . . ID=VAR_004913;Note=In OTCD. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1721894;Dbxref=dbSNP:rs67120076,PMID:1721894 P00480 UniProtKB Natural variant 225 225 . . . ID=VAR_004914;Note=In OTCD%3B neonatal. P->R;Dbxref=dbSNP:rs67120076 P00480 UniProtKB Natural variant 225 225 . . . ID=VAR_004915;Note=In OTCD%3B late onset. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7951259;Dbxref=dbSNP:rs72558428,PMID:7951259 P00480 UniProtKB Natural variant 242 242 . . . ID=VAR_004916;Note=In OTCD%3B late onset. T->I;Dbxref=dbSNP:rs72558435 P00480 UniProtKB Natural variant 244 244 . . . ID=VAR_004917;Note=In OTCD%3B late onset. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452049;Dbxref=dbSNP:rs72558436,PMID:9452049 P00480 UniProtKB Natural variant 247 247 . . . ID=VAR_004918;Note=In OTCD%3B neonatal/late onset. T->K;Dbxref=dbSNP:rs72558437 P00480 UniProtKB Natural variant 255 255 . . . ID=VAR_004919;Note=In OTCD. H->P;Dbxref=dbSNP:rs72558440 P00480 UniProtKB Natural variant 262 262 . . . ID=VAR_010608;Note=In OTCD%3B mild. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10737985;Dbxref=dbSNP:rs67333670,PMID:10737985 P00480 UniProtKB Natural variant 263 263 . . . ID=VAR_004920;Note=In OTCD. D->G;Dbxref=dbSNP:rs72558443 P00480 UniProtKB Natural variant 263 263 . . . ID=VAR_004921;Note=In OTCD. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.32;Dbxref=dbSNP:rs72558442 P00480 UniProtKB Natural variant 264 264 . . . ID=VAR_004922;Note=In OTCD%3B late onset%3B decreased ornithine carbamoyltransferase activity%3B 8.9%25 activity. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10737985,ECO:0000269|PubMed:8112735;Dbxref=dbSNP:rs72558444,PMID:10737985,PMID:8112735 P00480 UniProtKB Natural variant 264 264 . . . ID=VAR_004923;Note=In OTCD%3B late onset. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452024;Dbxref=dbSNP:rs67156896,PMID:9452024 P00480 UniProtKB Natural variant 265 265 . . . ID=VAR_010609;Note=In OTCD%3B mild. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10737985;Dbxref=dbSNP:rs72558446,PMID:10737985 P00480 UniProtKB Natural variant 267 267 . . . ID=VAR_004924;Note=In OTCD. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452024;Dbxref=dbSNP:rs72558448,PMID:9452024 P00480 UniProtKB Natural variant 268 268 . . . ID=VAR_004925;Note=In OTCD%3B late onset. M->T;Dbxref=dbSNP:rs72558449 P00480 UniProtKB Natural variant 269 269 . . . ID=VAR_004926;Note=In OTCD%3B neonatal. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7474905;Dbxref=dbSNP:rs72558450,PMID:7474905 P00480 UniProtKB Natural variant 270 270 . . . ID=VAR_004927;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10070627,ECO:0000269|PubMed:16959974,ECO:0000269|PubMed:6372096;Dbxref=dbSNP:rs1800328,PMID:10070627,PMID:16959974,PMID:6372096 P00480 UniProtKB Natural variant 272 272 . . . ID=VAR_004928;Note=In OTCD%3B late onset. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956045;Dbxref=dbSNP:rs72558452,PMID:8956045 P00480 UniProtKB Natural variant 277 277 . . . ID=VAR_004929;Note=In OTCD%3B late onset. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7951259,ECO:0000269|PubMed:8081373;Dbxref=dbSNP:rs66724222,PMID:7951259,PMID:8081373 P00480 UniProtKB Natural variant 277 277 . . . ID=VAR_004930;Note=In OTCD%3B late onset. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2347583,ECO:0000269|PubMed:9065786;Dbxref=dbSNP:rs72558454,PMID:2347583,PMID:9065786 P00480 UniProtKB Natural variant 301 301 . . . ID=VAR_012654;Note=In OTCD. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=dbSNP:rs72558462,PMID:11793483 P00480 UniProtKB Natural variant 302 302 . . . ID=VAR_004931;Note=In OTCD%3B female%3B late onset. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8807340;Dbxref=dbSNP:rs67993095,PMID:8807340 P00480 UniProtKB Natural variant 302 302 . . . ID=VAR_004932;Note=In OTCD%3B late onset. H->Q;Dbxref=dbSNP:rs67870244 P00480 UniProtKB Natural variant 302 302 . . . ID=VAR_004933;Note=In OTCD%3B neonatal. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956038;Dbxref=dbSNP:rs72558463,PMID:8956038 P00480 UniProtKB Natural variant 303 303 . . . ID=VAR_004934;Note=In OTCD%3B neonatal. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452049;Dbxref=dbSNP:rs67468335,PMID:9452049 P00480 UniProtKB Natural variant 303 303 . . . ID=VAR_004935;Note=In OTCD. C->Y;Dbxref=dbSNP:rs72558464 P00480 UniProtKB Natural variant 304 304 . . . ID=VAR_004936;Note=In OTCD. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1480464;Dbxref=dbSNP:rs72558465,PMID:1480464 P00480 UniProtKB Natural variant 305 305 . . . ID=VAR_012655;Note=In OTCD. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=dbSNP:rs67501347,PMID:11793483 P00480 UniProtKB Natural variant 309 309 . . . ID=VAR_004937;Note=In OTCD%3B late onset. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7951259;Dbxref=PMID:7951259 P00480 UniProtKB Natural variant 320 320 . . . ID=VAR_004938;Note=In OTCD. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1671317;Dbxref=dbSNP:rs72558474,PMID:1671317 P00480 UniProtKB Natural variant 326 326 . . . ID=VAR_010610;Note=In OTCD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10070627;Dbxref=dbSNP:rs72558476,PMID:10070627 P00480 UniProtKB Natural variant 330 330 . . . ID=VAR_004939;Note=In OTCD. R->G;Dbxref=dbSNP:rs72558478 P00480 UniProtKB Natural variant 333 333 . . . ID=VAR_012656;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=PMID:11793483 P00480 UniProtKB Natural variant 336 336 . . . ID=VAR_004940;Note=In OTCD%3B late onset. A->S;Dbxref=dbSNP:rs72558486 P00480 UniProtKB Natural variant 337 337 . . . ID=VAR_004941;Note=In OTCD%3B late onset. V->L;Dbxref=dbSNP:rs72558487 P00480 UniProtKB Natural variant 339 339 . . . ID=VAR_004942;Note=In OTCD%3B neonatal. V->L;Dbxref=dbSNP:rs72558488 P00480 UniProtKB Natural variant 340 340 . . . ID=VAR_004943;Note=In OTCD%3B late onset. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9143919;Dbxref=dbSNP:rs72558489,PMID:9143919 P00480 UniProtKB Natural variant 341 341 . . . ID=VAR_012657;Note=In OTCD. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11793483;Dbxref=dbSNP:rs72558490,PMID:11793483 P00480 UniProtKB Natural variant 343 343 . . . ID=VAR_004944;Note=In OTCD%3B late onset. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956038;Dbxref=dbSNP:rs72558491,PMID:8956038 P00480 UniProtKB Natural variant 345 345 . . . ID=VAR_004946;Note=In OTCD%3B neonatal. Y->C;Dbxref=dbSNP:rs72558492 P00480 UniProtKB Natural variant 345 345 . . . ID=VAR_004947;Note=In OTCD. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1480464;Dbxref=dbSNP:rs66469337,PMID:1480464 P00480 UniProtKB Natural variant 354 354 . . . ID=VAR_004948;Note=In OTCD%3B late onset. F->C;Dbxref=dbSNP:rs72558495 P00480 UniProtKB Mutagenesis 15 15 . . . Note=Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix%3B when associated with G-23 and G-26. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:6372096;Dbxref=PMID:6372096 P00480 UniProtKB Mutagenesis 23 23 . . . Note=Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix%3B when associated with G-15 and G-26. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3895227;Dbxref=PMID:3895227 P00480 UniProtKB Mutagenesis 26 26 . . . Note=Loss of cleavage of the transit peptide and loss of localization to mitochondrial matrix%3B when associated with G-15 and G-23. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3895227;Dbxref=PMID:3895227 P00480 UniProtKB Sequence conflict 193 194 . . . Note=WI->CF;Ontology_term=ECO:0000305;evidence=ECO:0000305 P00480 UniProtKB Helix 45 47 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 50 68 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Turn 76 79 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 81 88 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 92 103 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 107 112 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Turn 113 115 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Turn 119 121 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 124 134 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 136 141 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 145 154 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 159 162 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 169 183 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 190 195 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 199 205 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Turn 206 208 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 209 211 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 214 218 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 227 240 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 244 248 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 250 254 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 258 262 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 271 273 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 274 280 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Turn 281 283 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 288 292 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Beta strand 299 302 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Turn 308 310 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 313 316 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH P00480 UniProtKB Helix 323 342 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1OTH