Mutations on the Protein: P00558 From Positions: 313 To 334
Swiss-Prot Disease: VAR_006085 

p.ASP315ASN

N/A
| |

N/A
|
---|

Phosphoglycerate kinase 1 deficiency (PGK1D)
|
---|
Swiss-Prot Disease: VAR_006086 

p.CYS316ARG

N/A
| |

N/A
|
---|

Phosphoglycerate kinase 1 deficiency (PGK1D)
|
---|
OMIM Disease: 311800.0007 

p.CYS315ARG

N/A
| |

N/A
|
---|

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN
|
---|
OMIM Disease: 311800.0012 

p.SER319ASN

N/A
| |

N/A
|
---|

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA
|
---|
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 |
|