##gff-version 3 P05093 UniProtKB Chain 1 508 . . . ID=PRO_0000051931;Note=Steroid 17-alpha-hydroxylase/17%2C20 lyase P05093 UniProtKB Binding site 202 202 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25301938;Dbxref=PMID:25301938 P05093 UniProtKB Binding site 442 442 . . . Note=Axial binding residue P05093 UniProtKB Natural variant 22 22 . . . ID=VAR_011755;Note=C->W;Dbxref=dbSNP:rs762563 P05093 UniProtKB Natural variant 35 35 . . . ID=VAR_022745;Note=In AH5%3B 38%25 17alpha-hydroxylase activity and 33%25 17%2C20-lyase activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10720067;Dbxref=PMID:10720067 P05093 UniProtKB Natural variant 53 53 . . . ID=VAR_001270;Note=In AH5%3B 10%25 17alpha-hydroxylase activity and 13%25 17%2C20-lyase activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10720067,ECO:0000269|PubMed:19793597,ECO:0000269|PubMed:2808364;Dbxref=PMID:10720067,PMID:19793597,PMID:2808364 P05093 UniProtKB Natural variant 64 64 . . . ID=VAR_001271;Note=In AH5. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8396144;Dbxref=dbSNP:rs1183147390,PMID:8396144 P05093 UniProtKB Natural variant 93 93 . . . ID=VAR_013147;Note=In AH5. F->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11836339;Dbxref=dbSNP:rs104894146,PMID:11836339 P05093 UniProtKB Natural variant 96 96 . . . ID=VAR_073043;Note=In AH5. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24498484;Dbxref=dbSNP:rs104894153,PMID:24498484 P05093 UniProtKB Natural variant 96 96 . . . ID=VAR_022746;Note=In AH5%3B 25%25 of both 17alpha-hydroxylase and 17%2C20-lyase activities. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10720067,ECO:0000269|PubMed:14671162,ECO:0000269|PubMed:8550762;Dbxref=dbSNP:rs104894138,PMID:10720067,PMID:14671162,PMID:8550762 P05093 UniProtKB Natural variant 106 106 . . . ID=VAR_001272;Note=In AH5. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1714904;Dbxref=dbSNP:rs104894135,PMID:1714904 P05093 UniProtKB Natural variant 112 112 . . . ID=VAR_001273;Note=In AH5. I->II;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8396144;Dbxref=PMID:8396144 P05093 UniProtKB Natural variant 114 114 . . . ID=VAR_022747;Note=In AH5. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12466376;Dbxref=dbSNP:rs104894147,PMID:12466376 P05093 UniProtKB Natural variant 116 116 . . . ID=VAR_022748;Note=In AH5. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12466376;Dbxref=dbSNP:rs104894148,PMID:12466376 P05093 UniProtKB Natural variant 121 121 . . . ID=VAR_073044;Note=In AH5%3B partial loss of activity. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25650406;Dbxref=PMID:25650406 P05093 UniProtKB Natural variant 174 174 . . . ID=VAR_073045;Note=In AH5. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24140098;Dbxref=PMID:24140098 P05093 UniProtKB Natural variant 177 177 . . . ID=VAR_022749;Note=In AH5%3B 10%25 17alpha-hydroxylase and 17%2C20-lyase activities. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10720067;Dbxref=PMID:10720067 P05093 UniProtKB Natural variant 329 329 . . . ID=VAR_022750;Note=In AH5. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14671162;Dbxref=dbSNP:rs104894144,PMID:14671162 P05093 UniProtKB Natural variant 330 330 . . . ID=VAR_022751;Note=In AH5%3B complete loss of both 17alpha-hydroxylase and 17%2C20-lyase activities. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10720067;Dbxref=dbSNP:rs759060233,PMID:10720067 P05093 UniProtKB Natural variant 342 342 . . . ID=VAR_001274;Note=In AH5. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1740503;Dbxref=dbSNP:rs104894137,PMID:1740503 P05093 UniProtKB Natural variant 347 347 . . . ID=VAR_022752;Note=In AH5. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12466376;Dbxref=dbSNP:rs104894149,PMID:12466376 P05093 UniProtKB Natural variant 347 347 . . . ID=VAR_001275;Note=In AH5%3B selectively ablates 17%2C20-lyase activity%2C while preserving most 17alpha-hydroxylase activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11549685,ECO:0000269|PubMed:12466376,ECO:0000269|Ref.24;Dbxref=dbSNP:rs61754278,PMID:11549685,PMID:12466376 P05093 UniProtKB Natural variant 358 358 . . . ID=VAR_001276;Note=In AH5%3B selectively ablates 17%2C20-lyase activity%2C while preserving most 17alpha-hydroxylase activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11549685,ECO:0000269|Ref.24;Dbxref=dbSNP:rs104894139,PMID:11549685 P05093 UniProtKB Natural variant 362 362 . . . ID=VAR_022753;Note=In AH5. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14671162;Dbxref=dbSNP:rs104894142,PMID:14671162 P05093 UniProtKB Natural variant 373 373 . . . ID=VAR_001277;Note=In AH5. H->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24140098,ECO:0000269|PubMed:8245018;Dbxref=dbSNP:rs760695410,PMID:24140098,PMID:8245018 P05093 UniProtKB Natural variant 373 373 . . . ID=VAR_073046;Note=In AH5. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19793597;Dbxref=dbSNP:rs1423560123,PMID:19793597 P05093 UniProtKB Natural variant 406 406 . . . ID=VAR_073047;Note=In AH5%3B complete loss of both 17alpha-hydroxylase and 17%2C20-lyase activities. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24140098;Dbxref=PMID:24140098 P05093 UniProtKB Natural variant 406 406 . . . ID=VAR_022754;Note=In AH5. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14671162;Dbxref=dbSNP:rs104894143,PMID:14671162 P05093 UniProtKB Natural variant 417 417 . . . ID=VAR_022755;Note=In AH5%3B ablates both 17%2C20-lyase activity and 17alpha-hydroxylase activity%3B loss of heme-binding and loss of phosphorylation. F->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10720067,ECO:0000269|PubMed:11549685;Dbxref=dbSNP:rs104894140,PMID:10720067,PMID:11549685 P05093 UniProtKB Natural variant 428 428 . . . ID=VAR_022756;Note=In AH5. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14671162;Dbxref=dbSNP:rs104894145,PMID:14671162 P05093 UniProtKB Natural variant 440 440 . . . ID=VAR_001278;Note=In AH5. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8027220;Dbxref=dbSNP:rs777638364,PMID:8027220 P05093 UniProtKB Natural variant 487 489 . . . ID=VAR_001279;Note=In AH5. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8345056;Dbxref=PMID:8345056 P05093 UniProtKB Natural variant 496 496 . . . ID=VAR_001280;Note=In AH5. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1515452;Dbxref=dbSNP:rs1250463562,PMID:1515452 P05093 UniProtKB Natural variant 496 496 . . . ID=VAR_022757;Note=In AH5%3B 30%25 17alpha-hydroxylase activity and 29%25 17%2C20-lyase activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10720067;Dbxref=dbSNP:rs763398879,PMID:10720067 P05093 UniProtKB Mutagenesis 105 105 . . . Note=Increases the affinity for progesterone%2C resulting in preferential hydroxylation of progesterone at C17 over C16%3B increases the catalytic efficiency in the 17%2C20 lyase reaction. A->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25301938;Dbxref=PMID:25301938 P05093 UniProtKB Beta strand 36 42 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WW0 P05093 UniProtKB Helix 49 60 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 62 68 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 71 76 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 79 86 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Turn 87 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 100 105 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Turn 106 109 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 111 114 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5UYS P05093 UniProtKB Helix 119 132 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 133 135 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 136 140 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WW0 P05093 UniProtKB Helix 142 159 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Turn 160 162 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 163 165 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WW0 P05093 UniProtKB Helix 168 184 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 193 208 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 213 217 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 219 221 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 228 251 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 262 271 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 276 278 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR0 P05093 UniProtKB Helix 284 287 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 289 320 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 322 335 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 338 340 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 344 348 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 351 363 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 376 381 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 384 386 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 391 394 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 396 400 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Turn 403 405 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 406 408 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 414 417 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 422 425 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WW0 P05093 UniProtKB Helix 438 440 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 445 462 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 463 466 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 469 471 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6CIR P05093 UniProtKB Beta strand 479 485 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Beta strand 491 495 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1 P05093 UniProtKB Helix 497 500 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WR1