Mutations on the Protein: Q00604 From Positions: 60 To 67
Swiss-Prot Disease: VAR_005487 

p.ALA63ASP

N/A
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N/A
|
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Norrie disease (ND)
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dbSNP Polymorphism: rs1126911 
Swiss-Prot Disease: VAR_005490 

p.CYS65TRP

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
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Swiss-Prot Disease: VAR_005488 

p.CYS65TYR

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
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Swiss-Prot Disease: VAR_064007 

p.LEU61ILE

N/A
| |

N/A
|
---|

Vitreoretinopathy, exudative 2 (EVR2)
|
---|
Swiss-Prot Disease: VAR_005485 

p.LEU61PHE

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
Swiss-Prot Disease: VAR_005486 

p.LEU61PRO

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
Swiss-Prot Disease: VAR_005484 

p.VAL60GLU

N/A
| |

N/A
|
---|

Norrie disease (ND)
|
---|
OMIM Disease: 300658.0012 

p.LEU61PHE

N/A
| |

N/A
|
---|

NORRIE DISEASE
|
---|
OMIM Disease: 300658.0003 

p.VAL60GLU

N/A
| |

N/A
|
---|

NORRIE DISEASE
|
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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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