Mutations on the Protein: P00558 From Positions: 146 To 167
Swiss-Prot Disease: VAR_006078 

p.ASP164VAL

N/A
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N/A
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Phosphoglycerate kinase 1 deficiency (PGK1D)
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Swiss-Prot Disease: VAR_006077 

p.GLY158VAL

N/A
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N/A
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Phosphoglycerate kinase 1 deficiency (PGK1D)
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OMIM Disease: 311800.0013 

p.ASP164VAL

N/A
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N/A
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PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS
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OMIM Disease: 311800.0006 

p.GLY157VAL

N/A
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N/A
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PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA
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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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