Mutations on the Protein: P10253 From Positions: 619 To 666
Swiss-Prot Disease: VAR_046477 

p.ARG660HIS

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_068622 

p.ASN635LYS

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_004304 

p.ASP645ASN

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_004302 

p.ASP645GLU

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_004303 

p.ASP645HIS

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_004305 

p.CYS647TRP

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_004301 

p.GLY643ARG

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_068624 

p.GLY648ASP

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_004306 

p.GLY648SER

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_046476 

p.GLY638TRP

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_068623 

p.GLY638VAL

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Polymorphism: VAR_068621 
Swiss-Prot Disease: VAR_046475 

p.SER619ARG

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
Swiss-Prot Disease: VAR_068620 

p.SER627PRO

N/A
| |

N/A
|
---|

Glycogen storage disease 2 (GSD2)
|
---|
OMIM Disease: 606800.0010 

p.ASP645GLU

N/A
| |

N/A
|
---|

GLYCOGEN STORAGE DISEASE II, INFANTILE FORM
|
---|
OMIM Disease: 606800.0004 

p.GLY643ARG

N/A
| |

N/A
|
---|

GLYCOGEN STORAGE DISEASE II, ADULT FORM
|
---|
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 |
|