Mutations on the Protein: Q00604 From Positions: 40 To 47
Swiss-Prot Disease: VAR_005480 

p.ARG41LYS

N/A
| |

N/A
|
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Vitreoretinopathy, exudative 2 (EVR2)
|
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Swiss-Prot Polymorphism: VAR_064000 
Swiss-Prot Disease: VAR_005481 

p.HIS42ARG

N/A
| |

N/A
|
---|

Vitreoretinopathy, exudative 2 (EVR2)
|
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Swiss-Prot Disease: VAR_064002 

p.HIS43ARG

N/A
| |

N/A
|
---|

Norrie disease (ND)
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Swiss-Prot Disease: VAR_064001 

p.HIS43GLN

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
Swiss-Prot Disease: VAR_005482 

p.TYR44CYS

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
Swiss-Prot Disease: VAR_064003 

p.VAL45GLU

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
Swiss-Prot Disease: VAR_064004 

p.VAL45MET

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
OMIM Disease: 300658.0013 

p.HIS42ARG

N/A
| |

N/A
|
---|

EXUDATIVE VITREORETINOPATHY, X-LINKED
|
---|
OMIM Disease: 300658.0004 

p.TYR44CYS

N/A
| |

N/A
|
---|

NORRIE DISEASE
|
---|
OMIM Disease: 300658.0019 

p.VAL45GLU

N/A
| |

N/A
|
---|

NORRIE DISEASE
|
---|
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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