##gff-version 3 P26367 UniProtKB Chain 1 422 . . . ID=PRO_0000050185;Note=Paired box protein Pax-6 P26367 UniProtKB DNA binding 4 130 . . . Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 P26367 UniProtKB DNA binding 210 269 . . . Note=Homeobox;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00108 P26367 UniProtKB Region 7 63 . . . Note=PAI subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 P26367 UniProtKB Region 82 130 . . . Note=RED subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00381 P26367 UniProtKB Region 162 201 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P26367 UniProtKB Region 269 311 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P26367 UniProtKB Region 345 422 . . . Note=Required for suppression of NFATC1-mediated transcription;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63015 P26367 UniProtKB Compositional bias 167 199 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P26367 UniProtKB Compositional bias 276 311 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P26367 UniProtKB Alternative sequence 47 47 . . . ID=VSP_002366;Note=In isoform 5a. Q->QTHADAKVQVLDNQN;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 P26367 UniProtKB Natural variant 17 17 . . . ID=VAR_003808;Note=In AN1. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856761;Dbxref=PMID:9856761 P26367 UniProtKB Natural variant 18 18 . . . ID=VAR_003809;Note=In AN1. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792406;Dbxref=PMID:9792406 P26367 UniProtKB Natural variant 19 19 . . . ID=VAR_047860;Note=In AN1. R->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12634864,ECO:0000269|PubMed:24033328;Dbxref=PMID:12634864,PMID:24033328 P26367 UniProtKB Natural variant 22 26 . . . ID=VAR_008693;Note=In AN1. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12634864,ECO:0000269|PubMed:9281415;Dbxref=PMID:12634864,PMID:9281415 P26367 UniProtKB Natural variant 26 26 . . . ID=VAR_003810;Note=In ASGD5. R->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8162071,ECO:0000269|PubMed:9147640;Dbxref=dbSNP:rs121907913,PMID:8162071,PMID:9147640 P26367 UniProtKB Natural variant 29 29 . . . ID=VAR_008694;Note=In AN1. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.27 P26367 UniProtKB Natural variant 29 29 . . . ID=VAR_003811;Note=In AN1. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856761;Dbxref=PMID:9856761 P26367 UniProtKB Natural variant 33 33 . . . ID=VAR_008695;Note=In AN1. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9931324;Dbxref=PMID:9931324 P26367 UniProtKB Natural variant 37 39 . . . ID=VAR_008696;Note=In AN1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.28 P26367 UniProtKB Natural variant 38 38 . . . ID=VAR_084825;Note=In FVH1%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29914532;Dbxref=PMID:29914532 P26367 UniProtKB Natural variant 42 42 . . . ID=VAR_008697;Note=In AN1%3B mild. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10234503;Dbxref=PMID:10234503 P26367 UniProtKB Natural variant 43 43 . . . ID=VAR_008698;Note=In AN1. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9931324;Dbxref=PMID:9931324 P26367 UniProtKB Natural variant 44 44 . . . ID=VAR_003812;Note=In AN1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856761;Dbxref=PMID:9856761 P26367 UniProtKB Natural variant 46 46 . . . ID=VAR_047861;Note=In AN1%3B shows almost no binding efficiency%3B transcriptional activation ability is about 50%25 lower than that of the wild-type protein. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552561;Dbxref=PMID:12552561 P26367 UniProtKB Natural variant 52 52 . . . ID=VAR_047862;Note=In AN1%3B shows almost no binding efficiency%3B transcriptional activation ability is about 50%25 lower than that of the wild-type protein. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552561;Dbxref=PMID:12552561 P26367 UniProtKB Natural variant 53 53 . . . ID=VAR_008700;Note=In ASGD5%3B also found in patients with congenital cataract and foveal hypoplasia. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10441571;Dbxref=PMID:10441571 P26367 UniProtKB Natural variant 53 53 . . . ID=VAR_008699;Note=In AN1%3B mild%3B shows 50%25 lower DNA-binding and transactivation ability than the wild-type protein. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10234503,ECO:0000269|PubMed:12552561;Dbxref=PMID:10234503,PMID:12552561 P26367 UniProtKB Natural variant 56 56 . . . ID=VAR_047863;Note=In AN1%3B shows only one-quarter to one-third the binding ability of the normal wild-type protein%3B exhibits normal transactivation. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552561;Dbxref=PMID:12552561 P26367 UniProtKB Natural variant 63 63 . . . ID=VAR_008701;Note=In AN1%3B mild. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10234503;Dbxref=PMID:10234503 P26367 UniProtKB Natural variant 64 64 . . . ID=VAR_008702;Note=In foveal hypoplasia%3B associated with presenile cataract syndrome. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9931324;Dbxref=dbSNP:rs121907920,PMID:9931324 P26367 UniProtKB Natural variant 68 68 . . . ID=VAR_017540;Note=In morning glory disk anomaly%3B significant impairment of transcriptional activation ability. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=dbSNP:rs121907923,PMID:12721955 P26367 UniProtKB Natural variant 73 73 . . . ID=VAR_047864;Note=In AN1%3B shows almost no binding efficiency%3B transcriptional activation ability is about 80%25 of that of the wild-type protein. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552561;Dbxref=PMID:12552561 P26367 UniProtKB Natural variant 79 79 . . . ID=VAR_008703;Note=In AN1%3B mild. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10234503;Dbxref=PMID:10234503 P26367 UniProtKB Natural variant 87 87 . . . ID=VAR_047865;Note=In AN1. I->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552561;Dbxref=PMID:12552561 P26367 UniProtKB Natural variant 87 87 . . . ID=VAR_003813;Note=In AN1%3B loss of activity. I->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9147640;Dbxref=PMID:9147640 P26367 UniProtKB Natural variant 118 118 . . . ID=VAR_015065;Note=In a family with nystagmus associated with a variant form of aniridia. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10955655;Dbxref=PMID:10955655 P26367 UniProtKB Natural variant 119 119 . . . ID=VAR_008704;Note=In AN1. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11553050,ECO:0000269|Ref.27;Dbxref=dbSNP:rs121907928,PMID:11553050 P26367 UniProtKB Natural variant 125 125 . . . ID=VAR_017541;Note=In FVH1%3B isolated. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8640214;Dbxref=PMID:8640214 P26367 UniProtKB Natural variant 126 126 . . . ID=VAR_008705;Note=In AN1%3B atypical form. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9931324;Dbxref=dbSNP:rs121907919,PMID:9931324 P26367 UniProtKB Natural variant 128 128 . . . ID=VAR_003814;Note=In FVH1%3B isolated. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8640214;Dbxref=dbSNP:rs121907918,PMID:8640214 P26367 UniProtKB Natural variant 178 178 . . . ID=VAR_003815;Note=In AN1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856761;Dbxref=PMID:9856761 P26367 UniProtKB Natural variant 208 208 . . . ID=VAR_008706;Note=In AN1%3B mild. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10234503;Dbxref=dbSNP:rs749244084,PMID:10234503 P26367 UniProtKB Natural variant 208 208 . . . ID=VAR_003816;Note=In AN1. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8364574;Dbxref=dbSNP:rs757259413,PMID:8364574 P26367 UniProtKB Natural variant 242 242 . . . ID=VAR_047866;Note=In AN1%3B the mutant homeodomain binds DNA as well as the wild-type homeodomain%3B the mutant does not modify the DNA-binding properties of the paired domain%3B the steady-state levels of the full-length mutant protein are higher than those of the wild-type one%3B a responsive promoter is activated to a higher extent by the mutant protein than by the wild-type protein%3B the presence of the mutation reduces sensitivity to trypsin digestion. R->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11826019,ECO:0000269|PubMed:16493447;Dbxref=dbSNP:rs121907927,PMID:11826019,PMID:16493447 P26367 UniProtKB Natural variant 258 258 . . . ID=VAR_017542;Note=In COAD and COLON%3B significant impairment of transcriptional activation ability. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=dbSNP:rs121907925,PMID:12721955 P26367 UniProtKB Natural variant 292 292 . . . ID=VAR_017543;Note=In BONH%3B significant impairment of ability to activate transcription. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=PMID:12721955 P26367 UniProtKB Natural variant 321 321 . . . ID=VAR_047867;Note=Shows about two-fold higher binding efficiency than the normal wild-type protein%3B transcriptional activation ability is about 89%25 of that of the wild-type protein. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552561;Dbxref=PMID:12552561 P26367 UniProtKB Natural variant 353 353 . . . ID=VAR_008707;Note=In AN1. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.27;Dbxref=dbSNP:rs373661718 P26367 UniProtKB Natural variant 363 363 . . . ID=VAR_017544;Note=In ASGD5. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=PMID:12721955 P26367 UniProtKB Natural variant 375 375 . . . ID=VAR_015066;Note=In AN1%3B reduced DNA binding ability. P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11309364;Dbxref=dbSNP:rs200015827,PMID:11309364 P26367 UniProtKB Natural variant 378 378 . . . ID=VAR_017545;Note=In optic nerve aplasia. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=PMID:12721955 P26367 UniProtKB Natural variant 381 381 . . . ID=VAR_017546;Note=In BONH. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=PMID:12721955 P26367 UniProtKB Natural variant 387 387 . . . ID=VAR_047868;Note=G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10737978;Dbxref=dbSNP:rs1392343463,PMID:10737978 P26367 UniProtKB Natural variant 391 391 . . . ID=VAR_017547;Note=In BONH. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12721955;Dbxref=dbSNP:rs121907926,PMID:12721955 P26367 UniProtKB Natural variant 395 395 . . . ID=VAR_067698;Note=In AN1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21850189;Dbxref=PMID:21850189 P26367 UniProtKB Natural variant 422 422 . . . ID=VAR_008708;Note=In AN1 and ocular anterior segment anomalies%3B loss of DNA binding ability. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11309364,ECO:0000269|PubMed:9538891;Dbxref=dbSNP:rs780356070,PMID:11309364,PMID:9538891 P26367 UniProtKB Sequence conflict 317 317 . . . Note=R->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 P26367 UniProtKB Sequence conflict 369 369 . . . Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 P26367 UniProtKB Beta strand 6 8 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Beta strand 14 16 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 23 34 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 39 46 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 50 63 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Beta strand 77 79 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 81 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 99 108 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Turn 114 116 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 120 133 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6PAX P26367 UniProtKB Helix 219 229 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CUE P26367 UniProtKB Helix 237 246 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CUE P26367 UniProtKB Helix 251 275 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2CUE