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Results for the Protein: P48735
20141568

IDHP_HUMAN RecName: Full=Isocitrate dehydrogenase [NADP], mitochondrial; Short=IDH; AltName: Full=ICD-M; AltName: Full=IDP; AltName: Full=NADP(+)-specific ICDH; AltName: Full=Oxalosuccinate decarboxylase; Flags: Precursor

Known Diseases associated with this Protein:
  D-2-HYDROXYGLUTARIC ACIDURIA 2
  D-2-HYDROXYGLUTARIC ACIDURIA 2 (D2HGA2)
4
0
2
0
2
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Swiss-Prot Protein: P48735
Identical to: NP_002159
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065175Diseasep.ARG140GLND-2-hydroxyglutaric aciduria 2 (D2HGA2)
Swiss-ProtVAR_065174Diseasep.ARG140GLYD-2-hydroxyglutaric aciduria 2 (D2HGA2)
OMIM147650.0001 Diseasep.ARG140GLND-2-HYDROXYGLUTARIC ACIDURIA 2
OMIM147650.0002 Diseasep.ARG140GLYD-2-HYDROXYGLUTARIC ACIDURIA 2



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