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Results for the Protein: P07738
130350
669

PMGE_HUMAN RecName: Full=Bisphosphoglycerate mutase; Short=BPGM; AltName: Full=2,3-bisphosphoglycerate mutase, erythrocyte; AltName: Full=2,3-bisphosphoglycerate synthase; AltName: Full=2,3-diphosphoglycerate mutase; Short=DPGM; AltName: Full=BPG-dependent PGAM

Known Diseases associated with this Protein:
  BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (BPGMD)
  BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ERYTHROCYTOSIS DUE TO
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1
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PGAM - smart00855


Swiss-Prot Protein: P07738
Identical to: NP_954655, NP_001715
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PGAMsmart008551.3e-655195

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065368Diseasep.ARG90CYSBisphosphoglycerate mutase deficiency (BPGMD)
Swiss-ProtVAR_065367Diseasep.ARG62GLNBisphosphoglycerate mutase deficiency (BPGMD)
OMIM613896.0001 Diseasep.ARG89CYSBISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ERYTHROCYTOSIS DUE TO



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