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Known Diseases associated with this Protein: | SPINOCEREBELLAR ATAXIA 5 (SCA5)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_070232 | Disease | p.ARG480TRP | Spinocerebellar ataxia 5 (SCA5) | Swiss-Prot | VAR_035458 | Polymorphism | p.GLU774LYS | N/A | Swiss-Prot | VAR_048631 | Polymorphism | p.GLU835LYS | N/A | Swiss-Prot | VAR_026767 | Disease | p.LEU253PRO | Spinocerebellar ataxia 5 (SCA5) | Swiss-Prot | VAR_026770 | Polymorphism | p.SER825GLY | N/A | Swiss-Prot | VAR_026771 | Polymorphism | p.VAL1034ALA | N/A |
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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