##gff-version 3 P29803 UniProtKB Transit peptide 1 27 . . . Note=Mitochondrion;Ontology_term=ECO:0000250;evidence=ECO:0000250 P29803 UniProtKB Chain 28 388 . . . ID=PRO_0000020447;Note=Pyruvate dehydrogenase E1 component subunit alpha%2C testis-specific form%2C mitochondrial P29803 UniProtKB Modified residue 291 291 . . . Note=Phosphoserine%3B by PDK1%2C PDK2%2C PDK3 and PDK4;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16436377,ECO:0000269|PubMed:31536960;Dbxref=PMID:16436377,PMID:31536960 P29803 UniProtKB Modified residue 293 293 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31536960;Dbxref=PMID:31536960 P29803 UniProtKB Modified residue 298 298 . . . Note=Phosphoserine%3B by PDK3;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16436377;Dbxref=PMID:16436377 P29803 UniProtKB Natural variant 227 227 . . . ID=VAR_087365;Note=In SPGF70%3B uncertain significance. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:29581481,ECO:0000269|PubMed:35172124;Dbxref=dbSNP:rs200969445,PMID:29581481,PMID:35172124 P29803 UniProtKB Natural variant 376 376 . . . ID=VAR_034359;Note=R->G;Dbxref=dbSNP:rs17024795 P29803 UniProtKB Mutagenesis 230 230 . . . Note=Slightly reduces enzyme activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16436377;Dbxref=PMID:16436377 P29803 UniProtKB Mutagenesis 291 291 . . . Note=Strongly reduces enzyme activity. Increases enzyme activity in stem cells. S->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16436377,ECO:0000269|PubMed:31536960;Dbxref=PMID:16436377,PMID:31536960 P29803 UniProtKB Mutagenesis 291 291 . . . Note=Abolishes enzyme activity. Increases neuronal cell death in response to glutamate excitotoxicity. S->E%2CD;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16436377,ECO:0000269|PubMed:31536960;Dbxref=PMID:16436377,PMID:31536960 P29803 UniProtKB Mutagenesis 293 293 . . . Note=Increases enzyme activity in stem cells. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31536960;Dbxref=PMID:31536960 P29803 UniProtKB Mutagenesis 293 293 . . . Note=Abolishes enzyme activity. Increases neuronal cell death in response to glutamate excitotoxicity. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31536960;Dbxref=PMID:31536960 P29803 UniProtKB Mutagenesis 298 298 . . . Note=Slightly reduces enzyme activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16436377;Dbxref=PMID:16436377 P29803 UniProtKB Sequence conflict 127 127 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305