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Results for the Protein: P08559
129063

ODPA_HUMAN RecName: Full=Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; AltName: Full=PDHE1-A type I; Flags: Precursor

Known Diseases associated with this Protein:
  LEIGH SYNDROME, X-LINKED
  LEIGH SYNDROME, X-LINKED (X-LS)
  PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
  PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (PDHAD)
32
3
12
1
22
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Default View:

AcoA - COG1071
TPP_E1_PDC_ADC_BCADC - cd02000
E1_dh - pfam00676
TPP_E1_OGDC_like - cd02016


Swiss-Prot Protein: P08559
Identical to: NP_000275
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AcoACOG10711.6e-14036385
TPP_E1_PDC_ADC_BCADCcd020008.1e-15964353
TPP_E1_OGDC_likecd020160.00067103301
E1_dhpfam006768.6e-18566362

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069381Polymorphismp.ALA136THRN/A
Swiss-ProtVAR_004953Diseasep.ALA199THRPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004962Diseasep.ARG302CYSPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004949Diseasep.ARG72CYSPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004960Diseasep.ARG263GLNPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004959Diseasep.ARG263GLYPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_021055Diseasep.ARG288HISPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004963Diseasep.ARG302HISPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004966Diseasep.ARG378HISLeigh syndrome, X-linked (X-LS)
Swiss-ProtVAR_010238Diseasep.ARG10PROPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004958Diseasep.ASP258ALALeigh syndrome, X-linked (X-LS)
Swiss-ProtVAR_021056Diseasep.ASP315ASNPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_050436Polymorphismp.GLU333ASPN/A
Swiss-ProtVAR_004951Diseasep.GLY162ARGPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004950Diseasep.HIS113ASPPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004961Diseasep.HIS292LEUPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
dbSNPrs2229137 Polymorphismp.MET282LEUN/A
Swiss-ProtVAR_004955Diseasep.MET210VALPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004954Diseasep.PHE205LEULeigh syndrome, X-linked (X-LS)
Swiss-ProtVAR_004956Diseasep.PRO217LEUPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004957Diseasep.THR231ALAPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_021053Diseasep.TYR243ASNPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Swiss-ProtVAR_004952Diseasep.VAL167METPyruvate dehydrogenase E1-alpha deficiency (PDHAD)
OMIM300502.0009 Diseasep.ARG264CYSPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0008 Diseasep.ARG196GLYPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0022 Diseasep.ARG225GLYLEIGH SYNDROME, X-LINKED
OMIM300502.0020 Diseasep.ARG250HISPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0003 Diseasep.ARG340HISPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0017 Diseasep.ARG10PROPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0011 Diseasep.ASP220ALALEIGH SYNDROME, X-LINKED
OMIM300502.0014 Diseasep.ASP277ASNPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0023 Diseasep.LEU178PHEPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0015 Diseasep.MET244LEUPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0012 Diseasep.PHE167LEUPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
OMIM300502.0013 Diseasep.TYR205ASNPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY



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