##gff-version 3 Q99593 UniProtKB Chain 1 518 . . . ID=PRO_0000184435;Note=T-box transcription factor TBX5 Q99593 UniProtKB DNA binding 58 238 . . . Note=T-box;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00201,ECO:0000269|PubMed:26926761;Dbxref=PMID:26926761 Q99593 UniProtKB Region 1 46 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99593 UniProtKB Region 250 356 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99593 UniProtKB Compositional bias 263 299 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99593 UniProtKB Compositional bias 320 346 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99593 UniProtKB Modified residue 339 339 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29174768;Dbxref=PMID:29174768 Q99593 UniProtKB Alternative sequence 1 50 . . . ID=VSP_046845;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 Q99593 UniProtKB Alternative sequence 328 349 . . . ID=VSP_006387;Note=In isoform 2. EEECSTTDHPYKKPYMETSPSE->GECDHPWSICFLSYLFLSLGWG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8988165;Dbxref=PMID:8988165 Q99593 UniProtKB Alternative sequence 350 518 . . . ID=VSP_006388;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8988165;Dbxref=PMID:8988165 Q99593 UniProtKB Natural variant 49 49 . . . ID=VAR_015381;Note=In HOS. Q->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10842287;Dbxref=dbSNP:rs104894383,PMID:10842287 Q99593 UniProtKB Natural variant 54 54 . . . ID=VAR_015382;Note=In HOS. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10842287;Dbxref=dbSNP:rs104894384,PMID:10842287 Q99593 UniProtKB Natural variant 80 80 . . . ID=VAR_009701;Note=In HOS%3B significant cardiac malformations but only minor skeletal abnormalities%3B reduced protein stability and strongly reduced affinity for DNA. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10077612,ECO:0000269|PubMed:20450920;Dbxref=dbSNP:rs104894381,PMID:10077612,PMID:20450920 Q99593 UniProtKB Natural variant 132 132 . . . ID=VAR_076673;Note=Found in a patient with atrial fibrillation%3B likely pathogenic%3B reduces transcriptional activity%3B affects transcriptional regulation of NKX2-5. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27035640;Dbxref=PMID:27035640 Q99593 UniProtKB Natural variant 143 143 . . . ID=VAR_074599;Note=Found in a patient with sporadic dilated cardiomyopathy%3B likely pathogenic%3B associated with disease susceptibility%3B associated with significantly decreased transcriptional activity. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25963046;Dbxref=dbSNP:rs374906778,PMID:25963046 Q99593 UniProtKB Natural variant 154 154 . . . ID=VAR_074600;Note=Found in patients with familial dilated cardiomyopathy%3B likely pathogenic%3B associated with disease susceptibility%3B associated with significantly decreased transcriptional activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25725155;Dbxref=PMID:25725155 Q99593 UniProtKB Natural variant 170 170 . . . ID=VAR_076642;Note=Found in a patient with atrial fibrillation%3B likely pathogenic%3B reduces transcriptional activity%3B affects transcriptional regulation of NKX2-5 or GATA4. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26917986;Dbxref=PMID:26917986 Q99593 UniProtKB Natural variant 237 237 . . . ID=VAR_007456;Note=In HOS%3B extensive upper limb malformations%3B affects transcriptional regulation of MYH6. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10077612,ECO:0000269|PubMed:15735645,ECO:0000269|PubMed:8988165;Dbxref=dbSNP:rs104894378,PMID:10077612,PMID:15735645,PMID:8988165 Q99593 UniProtKB Natural variant 237 237 . . . ID=VAR_009702;Note=In HOS%3B extensive upper limb malformations%3B strongly reduced affinity for DNA. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10077612,ECO:0000269|PubMed:20450920;Dbxref=dbSNP:rs104894382,PMID:10077612,PMID:20450920 Q99593 UniProtKB Mutagenesis 234 234 . . . Note=Does not affect acetylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29174768;Dbxref=PMID:29174768 Q99593 UniProtKB Mutagenesis 325 325 . . . Note=Does not affect transcription factor activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29174768;Dbxref=PMID:29174768 Q99593 UniProtKB Mutagenesis 327 327 . . . Note=Does not affect transcription factor activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29174768;Dbxref=PMID:29174768 Q99593 UniProtKB Mutagenesis 339 339 . . . Note=Abolishes acetylation of the protein%2C leading to impaired transcription factor activity. Impaired subcellular location. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29174768;Dbxref=PMID:29174768 Q99593 UniProtKB Mutagenesis 340 340 . . . Note=Does not affect transcription factor activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29174768;Dbxref=PMID:29174768 Q99593 UniProtKB Sequence conflict 7 49 . . . Note=GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQ->ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPRSRLHPA;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 71 71 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 94 94 . . . Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 122 122 . . . Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 132 132 . . . Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 418 460 . . . Note=MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTS->WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRGNVPSTRPP;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 468 470 . . . Note=RQC->SSV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Sequence conflict 494 518 . . . Note=PRTLSPHQYHSVHGVGMVPEWSDNS->QGLYPLISTTLCTELAWCRVERQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q99593 UniProtKB Beta strand 43 48 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5BQD Q99593 UniProtKB Beta strand 55 58 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Helix 61 70 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 73 75 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 77 79 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 88 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 96 117 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 120 126 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 142 144 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Helix 145 150 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 153 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4S0H Q99593 UniProtKB Beta strand 159 161 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 177 187 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 194 197 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 201 204 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Helix 207 209 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Beta strand 211 216 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Helix 220 229 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6U Q99593 UniProtKB Helix 231 236 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X6V