Known Diseases associated with this Protein: |  ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
| ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (SNAX1)
|
|  | 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. |
|---|
 Default View:
| |
|---|
Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_068219 | Disease | p.ARG199CYS | Ataxia, sensory, 1, autosomal dominant (SNAX1) | | OMIM | 614649.0001 | Disease | p.ARG199CYS | ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT |
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 |
|
134035027
RN170_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF170; AltName: Full=Putative LAG1-interacting protein; AltName: Full=RING finger protein 170
2
0
1
0
1
