Mutations on the Protein: P23942 From Positions: 208 To 225
Swiss-Prot Disease: VAR_006885 

p.ARG220GLN

N/A
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N/A
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Patterned dystrophy of retinal pigment epithelium (PDREP)
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Swiss-Prot Disease: VAR_006886 

p.ARG220TRP

N/A
| |

N/A
|
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Patterned dystrophy of retinal pigment epithelium (PDREP)
|
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Swiss-Prot Disease: VAR_006879 

p.CYS213ARG

N/A
| |

N/A
|
---|

Patterned dystrophy of retinal pigment epithelium (PDREP)
|
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Swiss-Prot Disease: VAR_006880 

p.CYS214SER

N/A
| |

N/A
|
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Retinitis pigmentosa 7 (RP7)
|
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Swiss-Prot Disease: VAR_006873 

p.GLY208ASP

N/A
| |

N/A
|
---|

Retinitis pigmentosa 7 (RP7)
|
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Swiss-Prot Disease: VAR_006876 

p.PHE211LEU

N/A
| |

N/A
|
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Retinitis pigmentosa 7 (RP7)
|
---|
Swiss-Prot Disease: VAR_006874 

p.PRO210ARG

N/A
| |

N/A
|
---|

Retinitis pigmentosa 7 (RP7)
|
---|
Swiss-Prot Polymorphism: VAR_006883 
Swiss-Prot Disease: VAR_006881 

p.PRO216LEU

N/A
| |

N/A
|
---|

Retinitis pigmentosa 7 (RP7)
|
---|
Swiss-Prot Disease: VAR_006875 

p.PRO210SER

N/A
| |

N/A
|
---|

Retinitis pigmentosa 7 (RP7)
|
---|
Swiss-Prot Disease: VAR_006882 

p.PRO216SER

N/A
| |

N/A
|
---|

Retinitis pigmentosa 7 (RP7)
|
---|
Swiss-Prot Disease: VAR_006877 

p.SER212GLY

N/A
| |

N/A
|
---|

Retinitis pigmentosa 7 (RP7)
|
---|
Swiss-Prot Disease: VAR_006878 

p.SER212THR

N/A
| |

N/A
|
---|

Adult-onset vitelliform macular dystrophy (AVMD)
|
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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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