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Mutations on the Protein: P00558 From Positions: 250 To 271

6
3
0
3





Swiss-Prot Polymorphism: VAR_006083
p.ASP268ASN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_006081
p.GLU252ALA
N/A
N/A
Phosphoglycerate kinase 1 deficiency (PGK1D)


Swiss-Prot Disease: VAR_006082
p.VAL266MET
N/A
N/A
Phosphoglycerate kinase 1 deficiency (PGK1D)


OMIM Disease: 311800.0001
p.ASP268ASN
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN


OMIM Disease: 311800.0009
p.ILE252THR
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU


OMIM Disease: 311800.0003
p.VAL266MET
N/A
N/A
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO






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