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Known Diseases associated with this Protein: | DYSTONIA 11 (DYT11)
| MYOCLONUS-DYSTONIA SYNDROME
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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_058088 | Polymorphism | p.ASN49SER | N/A | Swiss-Prot | VAR_066743 | Disease | p.CYS271TYR | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066737 | Disease | p.GLY112ARG | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066734 | Disease | p.HIS60ARG | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066733 | Disease | p.HIS60PRO | Dystonia 11 (DYT11) | Swiss-Prot | VAR_026750 | Disease | p.LEU196ARG | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066741 | Disease | p.LEU184PRO | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066739 | Disease | p.LEU175SER | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066735 | Disease | p.MET92THR | Dystonia 11 (DYT11) | Swiss-Prot | VAR_058089 | Polymorphism | p.PRO399HIS | N/A | Swiss-Prot | VAR_066740 | Disease | p.SER177CYS | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066732 | Disease | p.THR36ARG | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066742 | Disease | p.TRP270ARG | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066736 | Disease | p.TRP100GLY | Dystonia 11 (DYT11) | Swiss-Prot | VAR_066738 | Disease | p.TYR115CYS | Dystonia 11 (DYT11) | OMIM | 604149.0002 | Disease | p.ARG102TER | MYOCLONUS-DYSTONIA SYNDROME | OMIM | 604149.0009 | Disease | p.ARG372TER | 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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