Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE 2B2 (CMT2B2)
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2
|
|  | 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_063521 | Disease | p.ALA335VAL | Charcot-Marie-Tooth disease 2B2 (CMT2B2) | | OMIM | 610197.0001 | Disease | p.ALA335VAL | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 |
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 |
|
158706143
MED25_HUMAN RecName: Full=Mediator of RNA polymerase II transcription subunit 25; AltName: Full=Activator interaction domain-containing protein 1; AltName: Full=Activator-recruited cofactor 92 kDa component; Short=ARC92; AltName: Full=Mediator complex subunit 25; AltName: Full=p78
2
0
1
0
1
