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Results for the Protein: P11182
400668
DBT

ODB2_HUMAN RecName: Full=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; AltName: Full=Branched-chain alpha-keto acid dehydrogenase complex component E2; Short=BCKAD-E2; Short=BCKADE2; AltName: Full=Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; AltName: Full=Dihydrolipoamide branched chain transacylase; AltName: Full=Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; Flags: Precursor

Known Diseases associated with this Protein:
  MAPLE SYRUP URINE DISEASE 2 (MSUD2)
3
0
0
0
3
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Swiss-Prot Protein: P11182
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015100Diseasep.GLY384SERMaple syrup urine disease 2 (MSUD2)
Swiss-ProtVAR_015099Diseasep.ILE98METMaple syrup urine disease 2 (MSUD2)
Swiss-ProtVAR_004978Diseasep.PHE276CYSMaple syrup urine disease 2 (MSUD2)



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