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Results for the Protein: P00558
52788229

PGK1_HUMAN RecName: Full=Phosphoglycerate kinase 1; AltName: Full=Cell migration-inducing gene 10 protein; AltName: Full=Primer recognition protein 2; Short=PRP 2

Known Diseases associated with this Protein:
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D)
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO
  PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA
  PHOSPHOGLYCERATE KINASE 1, PGK II
22
2
13
0
11
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Default View:

Pgk - COG0126
PGK - pfam00162
Phosphoglycerate_kin - cd00318


Swiss-Prot Protein: P00558
Identical to: NP_000282
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PgkCOG01263e-2003416
Phosphoglycerate_kincd003184.9e-2959416
PGKpfam001622.8e-2548406

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006080Diseasep.ARG206PROPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006083Polymorphismp.ASP268ASNN/A
Swiss-ProtVAR_006085Diseasep.ASP315ASNPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006078Diseasep.ASP164VALPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006084Diseasep.ASP285VALPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006086Diseasep.CYS316ARGPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006081Diseasep.GLU252ALAPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006077Diseasep.GLY158VALPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006076Diseasep.LEU88PROPhosphoglycerate kinase 1 deficiency (PGK1D)
Swiss-ProtVAR_006087Polymorphismp.THR352ASNN/A
Swiss-ProtVAR_006082Diseasep.VAL266METPhosphoglycerate kinase 1 deficiency (PGK1D)
OMIM311800.0002 Diseasep.ARG206PROPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA
OMIM311800.0001 Diseasep.ASP268ASNPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN
OMIM311800.0013 Diseasep.ASP164VALPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS
OMIM311800.0010 Diseasep.ASP285VALPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV
OMIM311800.0007 Diseasep.CYS315ARGPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN
OMIM311800.0006 Diseasep.GLY157VALPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA
OMIM311800.0011 Diseasep.ILE46ASNPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA
OMIM311800.0009 Diseasep.ILE252THRPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU
OMIM311800.0005 Diseasep.LEU88PROPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE
OMIM311800.0012 Diseasep.SER319ASNPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA
OMIM311800.0004 Diseasep.THR352ASNPHOSPHOGLYCERATE KINASE 1, PGK II
OMIM311800.0015 Diseasep.THR378PROPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA
OMIM311800.0003 Diseasep.VAL266METPHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO



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