##gff-version 3 P37058 UniProtKB Chain 1 310 . . . ID=PRO_0000054573;Note=17-beta-hydroxysteroid dehydrogenase type 3 P37058 UniProtKB Active site 198 198 . . . Note=Proton acceptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU10001 P37058 UniProtKB Binding site 48 77 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P37058 UniProtKB Binding site 185 185 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P37058 UniProtKB Alternative sequence 225 274 . . . ID=VSP_056640;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 P37058 UniProtKB Natural variant 31 31 . . . ID=VAR_014870;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs2066480 P37058 UniProtKB Natural variant 56 56 . . . ID=VAR_016067;Note=In MPH%3B Cambridge-2%3B affects NADPH cofactor binding. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9709959;Dbxref=dbSNP:rs119481078,PMID:9709959 P37058 UniProtKB Natural variant 65 65 . . . ID=VAR_016068;Note=In MPH. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8550739;Dbxref=dbSNP:rs747329682,PMID:8550739 P37058 UniProtKB Natural variant 80 80 . . . ID=VAR_006953;Note=In MPH%3B Gaza%3B almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8075637;Dbxref=dbSNP:rs119481075,PMID:8075637 P37058 UniProtKB Natural variant 80 80 . . . ID=VAR_006954;Note=In MPH. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9758445;Dbxref=dbSNP:rs119481077,PMID:9758445 P37058 UniProtKB Natural variant 130 130 . . . ID=VAR_016069;Note=In MPH%3B Cambridge-1%3B complete loss of activity. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9709959;Dbxref=dbSNP:rs119481079,PMID:9709959 P37058 UniProtKB Natural variant 133 133 . . . ID=VAR_075369;Note=In MPH%3B almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity%3B no effect on protein abundance%3B no effect on endoplasmic reticulum location. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26545797;Dbxref=dbSNP:rs747724352,PMID:26545797 P37058 UniProtKB Natural variant 176 176 . . . ID=VAR_016070;Note=In MPH. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8550739;Dbxref=dbSNP:rs767259718,PMID:8550739 P37058 UniProtKB Natural variant 203 203 . . . ID=VAR_006955;Note=In MPH%3B loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8075637;Dbxref=dbSNP:rs119481076,PMID:8075637 P37058 UniProtKB Natural variant 205 205 . . . ID=VAR_016071;Note=In MPH. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8550739;Dbxref=dbSNP:rs372027264,PMID:8550739 P37058 UniProtKB Natural variant 208 208 . . . ID=VAR_016072;Note=In MPH. F->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8550739;Dbxref=PMID:8550739 P37058 UniProtKB Natural variant 215 215 . . . ID=VAR_016203;Note=In MPH. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8550739;Dbxref=dbSNP:rs115063639,PMID:8550739 P37058 UniProtKB Natural variant 232 232 . . . ID=VAR_006956;Note=In MPH%3B almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8075637;Dbxref=dbSNP:rs28939085,PMID:8075637 P37058 UniProtKB Natural variant 235 235 . . . ID=VAR_006957;Note=In MPH%3B almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8075637;Dbxref=dbSNP:rs119481074,PMID:8075637 P37058 UniProtKB Natural variant 268 268 . . . ID=VAR_016073;Note=In MPH%3B complete loss of activity. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11158067;Dbxref=dbSNP:rs119481080,PMID:11158067 P37058 UniProtKB Natural variant 282 282 . . . ID=VAR_016074;Note=In MPH. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8550739;Dbxref=dbSNP:rs144809928,PMID:8550739 P37058 UniProtKB Natural variant 289 289 . . . ID=VAR_061844;Note=G->C;Dbxref=dbSNP:rs2066479 P37058 UniProtKB Natural variant 289 289 . . . ID=VAR_061845;Note=G->R;Dbxref=dbSNP:rs2066479 P37058 UniProtKB Natural variant 289 289 . . . ID=VAR_014871;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9709959,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2066479,PMID:9709959 P37058 UniProtKB Mutagenesis 133 133 . . . Note=Has 70%25 of wild-type testosterone 17-beta-dehydrogenase (NADP(+)) activity. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26545797;Dbxref=PMID:26545797 P37058 UniProtKB Mutagenesis 133 133 . . . Note=Almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. G->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26545797;Dbxref=PMID:26545797 P37058 UniProtKB Mutagenesis 133 133 . . . Note=Almost complete loss of testosterone 17-beta-dehydrogenase (NADP(+)) activity. G->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26545797;Dbxref=PMID:26545797