##gff-version 3 P10746 UniProtKB Chain 1 265 . . . ID=PRO_0000135251;Note=Uroporphyrinogen-III synthase P10746 UniProtKB Natural variant 3 3 . . . ID=VAR_021615;Note=In CEP%3B no residual activity. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9188670;Dbxref=dbSNP:rs773301339,PMID:9188670 P10746 UniProtKB Natural variant 4 4 . . . ID=VAR_003674;Note=In CEP. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1733834;Dbxref=dbSNP:rs121908015,PMID:1733834 P10746 UniProtKB Natural variant 19 19 . . . ID=VAR_003675;Note=In CEP. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7860775;Dbxref=PMID:7860775 P10746 UniProtKB Natural variant 47 47 . . . ID=VAR_021616;Note=In CEP%3B severe cutaneous lesions%3B less than 3%25 wild-type activity. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15304101;Dbxref=dbSNP:rs397515527,PMID:15304101 P10746 UniProtKB Natural variant 53 53 . . . ID=VAR_003676;Note=In CEP%3B severe phenotype%3B no detectable activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2331520;Dbxref=dbSNP:rs121908013,PMID:2331520 P10746 UniProtKB Natural variant 62 62 . . . ID=VAR_003677;Note=In CEP%3B the effect on catalytic activity is controversial. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11689424,ECO:0000269|PubMed:1737856;Dbxref=dbSNP:rs28941775,PMID:11689424,PMID:1737856 P10746 UniProtKB Natural variant 66 66 . . . ID=VAR_003678;Note=In CEP%3B mild phenotype%3B strong decrease in enzymatic activity%2C when tested in vitro%3B may affect thermal stability. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1737856;Dbxref=dbSNP:rs28941774,PMID:1737856 P10746 UniProtKB Natural variant 69 69 . . . ID=VAR_021617;Note=In CEP%3B less than 2%25 wild-type activity. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12060141;Dbxref=PMID:12060141 P10746 UniProtKB Natural variant 73 73 . . . ID=VAR_003679;Note=In CEP%3B frequent mutation in Western countries%3B severe phenotype%3B loss of enzymatic activity%2C when tested in vitro. C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12060141,ECO:0000269|PubMed:1733834,ECO:0000269|PubMed:1737856,ECO:0000269|PubMed:2331520,ECO:0000269|PubMed:9803266;Dbxref=dbSNP:rs121908012,PMID:12060141,PMID:1733834,PMID:1737856,PMID:2331520,PMID:9803266 P10746 UniProtKB Natural variant 82 82 . . . ID=VAR_003680;Note=In CEP%3B mild phenotype%3B high residual activity. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7860775;Dbxref=dbSNP:rs121908016,PMID:7860775 P10746 UniProtKB Natural variant 99 99 . . . ID=VAR_003681;Note=In CEP. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7860775;Dbxref=PMID:7860775 P10746 UniProtKB Natural variant 104 104 . . . ID=VAR_003682;Note=In CEP%3B residual activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7860775;Dbxref=dbSNP:rs397515528,PMID:7860775 P10746 UniProtKB Natural variant 124 124 . . . ID=VAR_049345;Note=K->R;Dbxref=dbSNP:rs17153561 P10746 UniProtKB Natural variant 129 129 . . . ID=VAR_021618;Note=In CEP%3B no residual activity. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11121156;Dbxref=PMID:11121156 P10746 UniProtKB Natural variant 171 171 . . . ID=VAR_049346;Note=V->G;Dbxref=dbSNP:rs17173752 P10746 UniProtKB Natural variant 188 188 . . . ID=VAR_013558;Note=In CEP%3B less than 5%25 wild-type activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9834209;Dbxref=dbSNP:rs121908017,PMID:9834209 P10746 UniProtKB Natural variant 188 188 . . . ID=VAR_021619;Note=In CEP%3B mild phenotype%3B less than 2%25 wild-type activity. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12060141;Dbxref=dbSNP:rs121908017,PMID:12060141 P10746 UniProtKB Natural variant 210 211 . . . ID=VAR_021620;Note=In CEP. EL->HIQSQAQSQAQDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12060141;Dbxref=PMID:12060141 P10746 UniProtKB Natural variant 212 212 . . . ID=VAR_003683;Note=In CEP%3B no residual activity. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8655129;Dbxref=dbSNP:rs139388833,PMID:8655129 P10746 UniProtKB Natural variant 219 219 . . . ID=VAR_021621;Note=In CEP%3B moderately-severe phenotype%3B less than 2%25 wild-type activity. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12060141;Dbxref=dbSNP:rs767029901,PMID:12060141 P10746 UniProtKB Natural variant 225 225 . . . ID=VAR_003684;Note=In CEP. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7860775;Dbxref=dbSNP:rs121908020,PMID:7860775 P10746 UniProtKB Natural variant 228 228 . . . ID=VAR_003685;Note=In CEP%3B loss of enzymatic activity%2C when tested in vitro. T->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12060141,ECO:0000269|PubMed:1733834,ECO:0000269|PubMed:1737856;Dbxref=dbSNP:rs121908014,PMID:12060141,PMID:1733834,PMID:1737856 P10746 UniProtKB Natural variant 237 237 . . . ID=VAR_067318;Note=In CEP. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22350154;Dbxref=dbSNP:rs777433697,PMID:22350154 P10746 UniProtKB Natural variant 248 248 . . . ID=VAR_066247;Note=In CEP. P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21653323;Dbxref=dbSNP:rs121908021,PMID:21653323 P10746 UniProtKB Mutagenesis 63 63 . . . Note=Does not affect enzymatic activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 65 65 . . . Note=Slightly affects enzymatic activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 103 103 . . . Note=Slightly affects enzymatic activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 127 127 . . . Note=Does not affect enzymatic activity. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 168 168 . . . Note=Impairs enzymatic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 197 197 . . . Note=Does not affect enzymatic activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 220 220 . . . Note=Does not affect enzymatic activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 227 227 . . . Note=Does not affect enzymatic activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Mutagenesis 228 228 . . . Note=Impairs enzymatic activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11689424;Dbxref=PMID:11689424 P10746 UniProtKB Beta strand 2 9 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 18 24 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Turn 25 27 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 29 34 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 36 40 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 43 50 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 53 55 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 57 61 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 64 76 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 80 86 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 88 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 94 98 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 101 109 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 122 130 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 139 144 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 146 148 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 151 156 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Turn 157 159 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 162 166 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 168 172 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 176 187 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 191 197 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 198 212 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 213 218 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 219 225 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 226 234 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 240 242 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Beta strand 244 247 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2 P10746 UniProtKB Helix 248 258 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JR2