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Results for the Protein: P15259
130353

PGAM2_HUMAN RecName: Full=Phosphoglycerate mutase 2; AltName: Full=BPG-dependent PGAM 2; AltName: Full=Muscle-specific phosphoglycerate mutase; AltName: Full=Phosphoglycerate mutase isozyme M; Short=PGAM-M

Known Diseases associated with this Protein:
  GLYCOGEN STORAGE DISEASE 10 (GSD10)
  GLYCOGEN STORAGE DISEASE X
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PGAM - smart00855


Swiss-Prot Protein: P15259
Identical to: NP_000281
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PGAMsmart008554.5e-615193

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006089Diseasep.ARG90TRPGlycogen storage disease 10 (GSD10)
Swiss-ProtVAR_006088Diseasep.GLU89ALAGlycogen storage disease 10 (GSD10)
Swiss-ProtVAR_013103Diseasep.GLY97ASPGlycogen storage disease 10 (GSD10)
dbSNPrs61756062 Polymorphismp.ILE114SERN/A
OMIM612931.0003 Diseasep.ARG90TRPGLYCOGEN STORAGE DISEASE X
OMIM612931.0002 Diseasep.GLU89ALAGLYCOGEN STORAGE DISEASE X
OMIM612931.0004 Diseasep.GLY97ASPGLYCOGEN STORAGE DISEASE X
OMIM612931.0001 Diseasep.TRP78TERGLYCOGEN STORAGE DISEASE X



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