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Results for the Protein: Q9H3L0
68565296

MMAD_HUMAN RecName: Full=Methylmalonic aciduria and homocystinuria type D protein, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  HOMOCYSTINURIA, CBLD TYPE, VARIANT 1
  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD (MMAHCD)
  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE
  METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2
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DUF2246 - pfam10229


Swiss-Prot Protein: Q9H3L0
Identical to: NP_056517
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF2246pfam102295.6e-17420295

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043847Diseasep.LEU259PROMethylmalonic aciduria and homocystinuria type cblD (MMAHCD)
Swiss-ProtVAR_043844Diseasep.THR182ASNMethylmalonic aciduria and homocystinuria type cblD (MMAHCD)
Swiss-ProtVAR_043846Diseasep.TYR249CYSMethylmalonic aciduria and homocystinuria type cblD (MMAHCD)
OMIM611935.0007 Diseasep.ARG250TERMETHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
OMIM611935.0005 Diseasep.ARG54TERMETHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2
OMIM611935.0001 Diseasep.LEU259PROHOMOCYSTINURIA, cblD TYPE, VARIANT 1
OMIM611935.0002 Diseasep.THR182ASNHOMOCYSTINURIA, cblD TYPE, VARIANT 1
OMIM611935.0003 Diseasep.TYR249CYSHOMOCYSTINURIA, cblD TYPE, VARIANT 1



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