Mutations on the Protein: Q6VVB1 From Positions: 20 To 40
Swiss-Prot Disease: VAR_019482 

p.CYS26SER

N/A
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N/A
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Epilepsy, progressive myoclonic 2 (EPM2)
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Swiss-Prot Disease: VAR_019483 

p.PHE33SER

N/A
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N/A
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Epilepsy, progressive myoclonic 2 (EPM2)
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Swiss-Prot Disease: VAR_046387 

p.SER22ARG

N/A
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N/A
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Epilepsy, progressive myoclonic 2 (EPM2)
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OMIM Disease: 608072.0001 

p.CYS26SER

N/A
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N/A
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EPILEPSY, PROGRESSIVE MYOCLONIC 2B
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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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