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Known Diseases associated with this Protein: |  SPINOCEREBELLAR ATAXIA 35
| SPINOCEREBELLAR ATAXIA 35 (SCA35)
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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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 Default View:
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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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| dbSNP | rs73894929 | Polymorphism | p.ALA141GLU | N/A | | dbSNP | rs61729227 | Polymorphism | p.ALA372THR | N/A | | dbSNP | rs79724097 | Polymorphism | p.ALA376THR | N/A | | dbSNP | rs75122556 | Polymorphism | p.ARG368GLN | N/A | | Swiss-Prot | VAR_065360 | Disease | p.ASP327GLY | Spinocerebellar ataxia 35 (SCA35) | | Swiss-Prot | VAR_065361 | Disease | p.LEU517TRP | Spinocerebellar ataxia 35 (SCA35) | | dbSNP | rs2076405 | Polymorphism | p.MET58VAL | N/A | | OMIM | 613900.0002 | Disease | p.ASP327GLY | SPINOCEREBELLAR ATAXIA 35 | | OMIM | 613900.0003 | Disease | p.ASP510HIS | SPINOCEREBELLAR ATAXIA 35 | | OMIM | 613900.0001 | Disease | p.LEU517TRP | SPINOCEREBELLAR ATAXIA 35 |
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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73621293
TGM3L_HUMAN RecName: Full=Protein-glutamine gamma-glutamyltransferase 6; AltName: Full=Transglutaminase Y; Short=TGY; Short=TGase Y; AltName: Full=Transglutaminase-3-like; Short=TGase-3-like; AltName: Full=Transglutaminase-6; Short=TG6; Short=TGase-6
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