|
|
|---|
 |
|
|  | 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_069805 | Disease | p.ARG273PRO | Hemolytic uremic syndrome atypical 7 (AHUS7) | | Swiss-Prot | VAR_069804 | Disease | p.ARG63PRO | Hemolytic uremic syndrome atypical 7 (AHUS7) | | Swiss-Prot | VAR_036120 | Polymorphism | p.LEU99ARG | N/A | | OMIM | 601440.0008 | Disease | p.ARG273PRO | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | | OMIM | 601440.0006 | Disease | p.ARG63PRO | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | | OMIM | 601440.0001 | Disease | p.GLN43TER | NEPHROTIC SYNDROME, TYPE 7 | | OMIM | 601440.0007 | Disease | p.SER11TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | | OMIM | 601440.0004 | Disease | p.TRP322TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 |
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 |
|
1708625
DGKE_HUMAN RecName: Full=Diacylglycerol kinase epsilon; Short=DAG kinase epsilon; AltName: Full=Diglyceride kinase epsilon; Short=DGK-epsilon
7
1
5
0
3
