##gff-version 3 O15273 UniProtKB Chain 1 167 . . . ID=PRO_0000072483;Note=Telethonin O15273 UniProtKB Region 144 167 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O15273 UniProtKB Modified residue 39 39 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70548 O15273 UniProtKB Natural variant 13 13 . . . ID=VAR_026649;Note=Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16352453,ECO:0000269|PubMed:16490376,ECO:0000269|PubMed:16650785;Dbxref=dbSNP:rs397516862,PMID:16352453,PMID:16490376,PMID:16650785 O15273 UniProtKB Natural variant 70 70 . . . ID=VAR_026650;Note=In CMH25. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16352453;Dbxref=dbSNP:rs775636212,PMID:16352453 O15273 UniProtKB Natural variant 74 74 . . . ID=VAR_029445;Note=L->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17851031,PMID:15489334 O15273 UniProtKB Natural variant 87 87 . . . ID=VAR_015397;Note=Found in a patient with dilated cardiomyopathy%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12507422;Dbxref=dbSNP:rs121434298,PMID:12507422 O15273 UniProtKB Natural variant 90 90 . . . ID=VAR_026651;Note=In CMH25%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16352453;Dbxref=dbSNP:rs727504427,PMID:16352453 O15273 UniProtKB Natural variant 106 106 . . . ID=VAR_051421;Note=R->C;Dbxref=dbSNP:rs45578741 O15273 UniProtKB Natural variant 132 132 . . . ID=VAR_029446;Note=Found in a patient with dilated cardiomyopathy%3B likely pathogenic%3B impairs the interaction with CSRP3%2C TTN and MYOZ2. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15582318;Dbxref=dbSNP:rs748358368,PMID:15582318 O15273 UniProtKB Natural variant 137 137 . . . ID=VAR_029447;Note=In CMH25%3B increased interaction with TTN and MYOZ2. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15582318;Dbxref=dbSNP:rs773317399,PMID:15582318 O15273 UniProtKB Natural variant 153 153 . . . ID=VAR_029448;Note=In CMH25. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15582318;Dbxref=dbSNP:rs149585781,PMID:15582318 O15273 UniProtKB Beta strand 4 14 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Turn 15 18 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Beta strand 19 33 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Helix 35 37 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Beta strand 38 44 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Turn 45 48 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Beta strand 49 55 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Beta strand 57 62 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Beta strand 67 73 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5 O15273 UniProtKB Beta strand 78 84 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1YA5