Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 2J (CDG2J)
|
|  | 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 ↕ |
|---|
| Cog4 | smart00762 | 3.4e-136 | 188 | 498 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_063767 | Disease | p.ARG729TRP | Congenital disorder of glycosylation 2J (CDG2J) | | Swiss-Prot | VAR_058009 | Polymorphism | p.THR158ILE | N/A |
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 |
|
311033464
COG4_HUMAN RecName: Full=Conserved oligomeric Golgi complex subunit 4; Short=COG complex subunit 4; AltName: Full=Component of oligomeric Golgi complex 4
1
1
0
0
2
