Known Diseases associated with this Protein: |  SPINOCEREBELLAR ATAXIA 27
| SPINOCEREBELLAR ATAXIA 27 (SCA27)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_022735 | Polymorphism | p.GLY42CYS | N/A | | Swiss-Prot | VAR_022736 | Disease | p.PHE145SER | Spinocerebellar ataxia 27 (SCA27) | | OMIM | 601515.0001 | Disease | p.PHE140SER | SPINOCEREBELLAR ATAXIA 27 |
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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2494463
FGF14_HUMAN RecName: Full=Fibroblast growth factor 14; Short=FGF-14; AltName: Full=Fibroblast growth factor homologous factor 4; Short=FHF-4
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