|
|
|---|
 |
|
Known Diseases associated with this Protein: |  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, 5 (SCAR5)
|
|  | 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_064583 | Disease | p.GLY1046ARG | Spinocerebellar ataxia, autosomal recessive, 5 (SCAR5) | | dbSNP | rs8182086 | Polymorphism | p.SER926ASN | N/A | | dbSNP | rs61736261 | Polymorphism | p.SER298GLY | N/A | | OMIM | 613624.0001 | Disease | p.GLY1046ARG | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 |
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 |
|
209572705
ZN592_HUMAN RecName: Full=Zinc finger protein 592
2
2
1
2
1
