##gff-version 3 O43272 UniProtKB Region 153 182 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O43272 UniProtKB Modified residue 368 368 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WU79 O43272 UniProtKB Modified residue 486 486 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WU79 O43272 UniProtKB Alternative sequence 1 108 . . . ID=VSP_021848;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 O43272 UniProtKB Alternative sequence 1 84 . . . ID=VSP_040848;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10192398,ECO:0000303|PubMed:9385373;Dbxref=PMID:10192398,PMID:9385373 O43272 UniProtKB Alternative sequence 85 95 . . . ID=VSP_040849;Note=In isoform 3. LLARHEQLLYV->MLEFVMREWKK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10192398,ECO:0000303|PubMed:9385373;Dbxref=PMID:10192398,PMID:9385373 O43272 UniProtKB Natural variant 8 8 . . . ID=VAR_064883;Note=P->L;Dbxref=dbSNP:rs181332931 O43272 UniProtKB Natural variant 19 19 . . . ID=VAR_064884;Note=Moderate reduction of enzymatic activity. Q->P;Dbxref=dbSNP:rs2008720 O43272 UniProtKB Natural variant 30 30 . . . ID=VAR_064885;Note=P->S;Dbxref=dbSNP:rs3815655 O43272 UniProtKB Natural variant 58 58 . . . ID=VAR_064886;Note=A->T;Dbxref=dbSNP:rs146648839 O43272 UniProtKB Natural variant 167 167 . . . ID=VAR_029563;Note=Probable risk factor for SCZD4%3B moderate reduction of enzymatic activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs761544165,PMID:15662599 O43272 UniProtKB Natural variant 185 185 . . . ID=VAR_029564;Note=Mild decrease of enzymatic activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs11913840,dbSNP:rs386819653,PMID:15662599 O43272 UniProtKB Natural variant 185 185 . . . ID=VAR_029565;Note=Moderate reduction of enzymatic activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs4819756,PMID:15662599 O43272 UniProtKB Natural variant 275 275 . . . ID=VAR_029874;Note=T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17135275;Dbxref=dbSNP:rs5747933,PMID:17135275 O43272 UniProtKB Natural variant 289 289 . . . ID=VAR_029566;Note=In HYRPRO1%3B uncertain sgnificance%3B mild decrease of enzymatic activity. L->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs137852934,PMID:12217952,PMID:15662599 O43272 UniProtKB Natural variant 406 406 . . . ID=VAR_029567;Note=Probable risk factor for SCZD4%3B strongly reduced enzymatic activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs3970555,PMID:11891283,PMID:15662599 O43272 UniProtKB Natural variant 426 426 . . . ID=VAR_029568;Note=In HYRPRO1%3B moderate reduction of enzymatic activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15662599;Dbxref=PMID:15662599 O43272 UniProtKB Natural variant 427 427 . . . ID=VAR_029569;Note=In HYRPRO1%3B benign%3B moderate reduction of enzymatic activity. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs2238731,PMID:11891283,PMID:15662599 O43272 UniProtKB Natural variant 431 431 . . . ID=VAR_029570;Note=In HYRPRO1%3B benign%3B moderate reduction of enzymatic activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15662599,ECO:0000269|PubMed:17135275;Dbxref=dbSNP:rs2904552,PMID:12217952,PMID:15662599,PMID:17135275 O43272 UniProtKB Natural variant 441 441 . . . ID=VAR_029571;Note=In HYRPRO1%3B uncertain significance%3B probable risk factor for SCZD4%3B strongly reduced enzymatic activity. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs2904551,PMID:11891283,PMID:12217952,PMID:15662599 O43272 UniProtKB Natural variant 444 444 . . . ID=VAR_029875;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17135275;Dbxref=dbSNP:rs765090516,PMID:17135275 O43272 UniProtKB Natural variant 453 453 . . . ID=VAR_029572;Note=In HYRPRO1%3B uncertain significance%3B probable risk factor for SCZD4%3B strongly reduced enzymatic activity. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs3970559,PMID:11891283,PMID:12217952,PMID:15662599 O43272 UniProtKB Natural variant 455 455 . . . ID=VAR_029573;Note=In HYRPRO1%3B uncertain significance%3B mild decrease of enzymatic activity. A->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs1807467,PMID:12217952,PMID:15662599 O43272 UniProtKB Natural variant 466 466 . . . ID=VAR_029574;Note=Probable risk factor for SCZD4%3B strongly reduced affinity for FAD%3B strongly reduced enzymatic activity. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs2870984,PMID:11891283,PMID:15662599 O43272 UniProtKB Natural variant 472 472 . . . ID=VAR_029575;Note=In HYRPRO1%3B benign%3B mild decrease of enzymatic activity. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs2870983,PMID:11891283,PMID:12217952,PMID:15662599 O43272 UniProtKB Natural variant 488 488 . . . ID=VAR_036566;Note=In a breast cancer sample%3B somatic mutation. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs139903009,PMID:16959974 O43272 UniProtKB Natural variant 521 521 . . . ID=VAR_029576;Note=Strongly reduced enzymatic activity. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs193919334,PMID:15662599 O43272 UniProtKB Natural variant 521 521 . . . ID=VAR_029577;Note=In HYRPRO1%3B uncertain significance%3B risk factor for SCZD4%3B enhanced enzymatic activity. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11891283,ECO:0000269|PubMed:12217952,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15662599;Dbxref=dbSNP:rs450046,PMID:11891283,PMID:12217952,PMID:15489334,PMID:15662599 O43272 UniProtKB Sequence conflict 144 144 . . . Note=Y->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 164 164 . . . Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 343 343 . . . Note=P->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 347 347 . . . Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 455 456 . . . Note=AE->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 571 571 . . . Note=L->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 588 588 . . . Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 O43272 UniProtKB Sequence conflict 596 596 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305