Mutations on the Protein: P00558 From Positions: 250 To 271
Swiss-Prot Polymorphism: VAR_006083 
Swiss-Prot Disease: VAR_006081 
p.GLU252ALA
N/A
| |
N/A
|
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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
|
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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
|
|---|
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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