Known Diseases associated with this Protein: |  RETINITIS PIGMENTOSA 59
| RETINITIS PIGMENTOSA 59 (RP59)
|
|  | 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_065356 | Disease | p.LYS42GLU | Retinitis pigmentosa 59 (RP59) | | Swiss-Prot | VAR_028088 | Polymorphism | p.VAL253MET | N/A | | OMIM | 608172.0001 | Disease | p.LYS42GLU | RETINITIS PIGMENTOSA 59 |
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 |
|
116241329
DHDDS_HUMAN RecName: Full=Dehydrodolichyl diphosphate synthase; Short=Dedol-PP synthase; AltName: Full=Cis-isoprenyltransferase; Short=CIT; Short=Cis-IPTase; AltName: Full=Epididymis tissue protein Li 189m
2
1
1
0
2
