Known Diseases associated with this Protein: |  MYOCLONUS-DYSTONIA SYNDROME
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 604149.0002 | Disease | p.ARG102TER | MYOCLONUS-DYSTONIA SYNDROME | | OMIM | 604149.0009 | Disease | p.ARG363TER | MYOCLONUS-DYSTONIA SYNDROME | | OMIM | 604149.0001 | Disease | p.ARG97TER | MYOCLONUS-DYSTONIA SYNDROME | | OMIM | 604149.0006 | Disease | p.LEU196ARG | MYOCLONUS-DYSTONIA SYNDROME |
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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150378535
epsilon-sarcoglycan isoform 3 [Homo sapiens]
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