|
|
|---|
 |
|
Known Diseases associated with this Protein: |  RETINITIS PIGMENTOSA 33
| RETINITIS PIGMENTOSA 33 (RP33)
|
|  | 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_065587 | Disease | p.ARG681CYS | Retinitis pigmentosa 33 (RP33) | | Swiss-Prot | VAR_065588 | Disease | p.ARG681HIS | Retinitis pigmentosa 33 (RP33) | | Swiss-Prot | VAR_063540 | Disease | p.ARG1090LEU | Retinitis pigmentosa 33 (RP33) | | Swiss-Prot | VAR_035943 | Polymorphism | p.PHE1736LEU | N/A | | Swiss-Prot | VAR_063539 | Disease | p.SER1087LEU | Retinitis pigmentosa 33 (RP33) | | Swiss-Prot | VAR_065590 | Disease | p.TYR689CYS | Retinitis pigmentosa 33 (RP33) | | Swiss-Prot | VAR_065589 | Polymorphism | p.VAL683LEU | N/A | | OMIM | 601664.0002 | Disease | p.ARG1090LEU | RETINITIS PIGMENTOSA 33 | | OMIM | 601664.0003 | Disease | p.GLN885GLU | RETINITIS PIGMENTOSA 33 | | OMIM | 601664.0001 | Disease | p.SER1087LEU | RETINITIS PIGMENTOSA 33 |
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 |
|
56405304
U520_HUMAN RecName: Full=U5 small nuclear ribonucleoprotein 200 kDa helicase; AltName: Full=Activating signal cointegrator 1 complex subunit 3-like 1; AltName: Full=BRR2 homolog; AltName: Full=U5 snRNP-specific 200 kDa protein; Short=U5-200KD
8
2
3
0
7
