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Results for the Protein: P21953
129034
594

ODBB_HUMAN RecName: Full=2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; AltName: Full=Branched-chain alpha-keto acid dehydrogenase E1 component beta chain; Short=BCKDE1B; Short=BCKDH E1-beta; Flags: Precursor

Known Diseases associated with this Protein:
  MAPLE SYRUP URINE DISEASE 1B (MSUD1B)
  MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
7
1
2
0
6
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Transket_pyr - smart00861


Swiss-Prot Protein: P21953
Identical to: NP_898871, NP_000047
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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_068348Diseasep.ARG170HISMaple syrup urine disease 1B (MSUD1B)
Swiss-ProtVAR_024851Diseasep.ARG183PROMaple syrup urine disease 1B (MSUD1B)
Swiss-ProtVAR_068349Diseasep.GLN346ARGMaple syrup urine disease 1B (MSUD1B)
Swiss-ProtVAR_024852Diseasep.GLY278SERMaple syrup urine disease 1B (MSUD1B)
Swiss-ProtVAR_004974Diseasep.HIS206ARGMaple syrup urine disease 1B (MSUD1B)
Swiss-ProtVAR_050437Polymorphismp.THR41ILEN/A
OMIM248611.0002 Diseasep.ARG183PROMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
OMIM248611.0003 Diseasep.HIS156TYRMAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB



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