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Known Diseases associated with this Protein: | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY (SCAN1)
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs28365054 | Polymorphism | p.ALA134THR | N/A | dbSNP | rs34452707 | Polymorphism | p.ARG304GLN | N/A | Swiss-Prot | VAR_025820 | Polymorphism | p.ASP187GLY | N/A | Swiss-Prot | VAR_025817 | Polymorphism | p.GLU95ASP | N/A | Swiss-Prot | VAR_017144 | Disease | p.HIS493ARG | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (SCAN1) | dbSNP | rs35455108 | Polymorphism | p.PRO101LEU | N/A | Swiss-Prot | VAR_017145 | Polymorphism | p.PRO566LEU | N/A | dbSNP | rs35973343 | Polymorphism | p.THR569ALA | N/A | OMIM | 607198.0001 | Disease | p.HIS493ARG | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY |
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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