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Results for the Protein: P10515
215274207

ODP2_HUMAN RecName: Full=Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; AltName: Full=70 kDa mitochondrial autoantigen of primary biliary cirrhosis; Short=PBC; AltName: Full=Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; AltName: Full=M2 antigen complex 70 kDa subunit; AltName: Full=Pyruvate dehydrogenase complex component E2; Short=PDC-E2; Short=PDCE2; Flags: Precursor

Known Diseases associated with this Protein:
  PYRUVATE DEHYDROGENASE E2 DEFICIENCY
1
7
1
4
3
Tips:
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Default View:

lipoyl_domain - cd06849
Biotin_lipoyl - pfam00364
Biotinyl_lipoyl_doma - cd06663
AceF - COG0508
biotinyl_domain - cd06850
E3_binding - pfam02817
2-oxoacid_dh - pfam00198


Swiss-Prot Protein: P10515
Identical to: NP_001922
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
lipoyl_domaincd068499e-2792166
Biotinyl_lipoyl_domacd066631.9e-2193166
AceFCOG05084.1e-149217647
lipoyl_domaincd068493.1e-30219293
Biotinyl_lipoyl_domacd066634.4e-36220293
biotinyl_domaincd068500.00085225293
Biotin_lipoylpfam003641.3e-1392166
Biotin_lipoylpfam003642.4e-16219293
E3_bindingpfam028171.6e-20353391
2-oxoacid_dhpfam001981.5e-116417647

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2303436 Polymorphismp.ALA43VALN/A
dbSNPrs10891314 Polymorphismp.ASP451ASNN/A
Swiss-ProtVAR_047414Polymorphismp.ASP313VALN/A
dbSNPrs11553595 Polymorphismp.GLN209ARGN/A
Swiss-ProtVAR_047412Polymorphismp.LEU99PHEN/A
Swiss-ProtVAR_047411Polymorphismp.SER98PHEN/A
dbSNPrs627441 Polymorphismp.VAL318ALAN/A
OMIM608770.0002 Diseasep.PHE576LEUPYRUVATE DEHYDROGENASE E2 DEFICIENCY



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