|
|
|---|
 |
|
Known Diseases associated with this Protein: |  BARE LYMPHOCYTE SYNDROME 2 (BLS2)
| BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E
|
|  | 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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
|---|
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs2233843 | Polymorphism | p.ALA22THR | N/A | | Swiss-Prot | VAR_015550 | Disease | p.ARG149GLN | Bare lymphocyte syndrome 2 (BLS2) | | Swiss-Prot | VAR_034448 | Polymorphism | p.ARG197GLN | N/A | | dbSNP | rs2233854 | Polymorphism | p.PRO409ARG | N/A | | dbSNP | rs2233855 | Polymorphism | p.PRO499SER | N/A | | OMIM | 601863.0005 | Disease | p.ARG149GLN | BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E |
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 |
|
1350587
RFX5_HUMAN RecName: Full=DNA-binding protein RFX5; AltName: Full=Regulatory factor X 5
2
4
1
3
2
