Mutations on the Protein: Q00604 From Positions: 120 To 126
Swiss-Prot Disease: VAR_005501 

p.ARG121GLN

N/A
| |

N/A
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Vitreoretinopathy, exudative 2 (EVR2)
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Swiss-Prot Disease: VAR_005500 

p.ARG121GLY

N/A
| |

N/A
|
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Vitreoretinopathy, exudative 2 (EVR2)
|
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Swiss-Prot Disease: VAR_064024 

p.ARG121LEU

N/A
| |

N/A
|
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Vitreoretinopathy, exudative 2 (EVR2)
|
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Swiss-Prot Disease: VAR_005502 

p.ARG121TRP

N/A
| |

N/A
|
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Vitreoretinopathy, exudative 2 (EVR2)
|
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Swiss-Prot Disease: VAR_064025 

p.CYS126SER

N/A
| |

N/A
|
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Norrie disease (ND)
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Swiss-Prot Disease: VAR_005504 

p.ILE123ASN

N/A
| |

N/A
|
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Norrie disease (ND)
|
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Swiss-Prot Disease: VAR_005505 

p.LEU124PHE

N/A
| |

N/A
|
---|

Vitreoretinopathy, exudative 2 (EVR2)
|
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Swiss-Prot Disease: VAR_005499 

p.TYR120CYS

N/A
| |

N/A
|
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Vitreoretinopathy, exudative 2 (EVR2)
|
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OMIM Disease: 300658.0017 

p.ARG121LEU

N/A
| |

N/A
|
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EXUDATIVE VITREORETINOPATHY 2, X-LINKED
|
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OMIM Disease: 300658.0010 

p.ARG121TRP

N/A
| |

N/A
|
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EXUDATIVE VITREORETINOPATHY 2, X-LINKED
|
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OMIM Disease: 300658.0006 

p.LEU124PHE

N/A
| |

N/A
|
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EXUDATIVE VITREORETINOPATHY 2, X-LINKED
|
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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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