Mutations on the Protein: Q00604 From Positions: 100 To 106
Swiss-Prot Disease: VAR_016050 

p.ALA105THR

N/A
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N/A
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Norrie disease (ND)
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Swiss-Prot Disease: VAR_064017 

p.LEU103VAL

N/A
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N/A
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Vitreoretinopathy, exudative 2 (EVR2)
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Swiss-Prot Disease: VAR_064018 

p.LYS104ASN

N/A
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N/A
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Norrie disease (ND)
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Swiss-Prot Disease: VAR_005498 

p.LYS104GLN

N/A
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N/A
|
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Norrie disease (ND)
|
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Swiss-Prot Disease: VAR_005497 

p.SER101PHE

N/A
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N/A
|
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Norrie disease (ND)
|
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OMIM Disease: 300658.0015 

p.ALA105THR

N/A
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N/A
|
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NORRIE DISEASE
|
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OMIM Disease: 300658.0021 

p.SER101PHE

N/A
| |

N/A
|
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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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