Known Diseases associated with this Protein: |  IMMUNODEFICIENCY 8
| IMMUNODEFICIENCY 8 (IMD8)
|
|  | 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_011956 | Polymorphism | p.ARG415LYS | N/A | | Swiss-Prot | VAR_011957 | Polymorphism | p.THR443PRO | N/A | | Swiss-Prot | VAR_070447 | Disease | p.VAL134MET | Immunodeficiency 8 (IMD8) | | OMIM | 605000.0002 | Disease | p.VAL134MET | IMMUNODEFICIENCY 8 |
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 |
|
1706004
COR1A_HUMAN RecName: Full=Coronin-1A; AltName: Full=Coronin-like protein A; Short=Clipin-A; AltName: Full=Coronin-like protein p57; AltName: Full=Tryptophan aspartate-containing coat protein; Short=TACO
2
2
1
0
3
