|
|
|---|
 |
|
|  | 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 ↕ |
|---|
| Swiss-Prot | VAR_002206 | Disease | p.GLY4ARG | Epilepsy, progressive myoclonic 1 (EPM1) | | OMIM | 601145.0002 | Disease | p.ARG68TER | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | | OMIM | 601145.0006 | Disease | p.GLN71PRO | MYCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | | OMIM | 601145.0004 | Disease | p.GLY4ARG | MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG |
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 |
|
1706278
CYTB_HUMAN RecName: Full=Cystatin-B; AltName: Full=CPI-B; AltName: Full=Liver thiol proteinase inhibitor; AltName: Full=Stefin-B
4
0
3
0
1
