Mutations on the Protein: NP_000313 From Positions: 156 To 173
OMIM Disease: 179605.0006 

p.ARG172GLN

N/A
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N/A
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CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
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OMIM Disease: 179605.0007 

p.ARG172TRP

N/A
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N/A
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CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
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OMIM Disease: 179605.0020 

p.ASP173VAL

N/A
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N/A
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RETINITIS PIGMENTOSA 7
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OMIM Disease: 179605.0009 

p.GLY167ASP

N/A
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N/A
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MACULAR DYSTROPHY, PATTERNED
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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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