Known Diseases associated with this Protein: |  DEMENTIA, FAMILIAL BRITISH
|
|  | 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 ↕ |
|---|
| OMIM | 603904.0001 | Disease | p.TER267ARG | DEMENTIA, FAMILIAL BRITISH |
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 |
|
12643343
ITM2B_HUMAN RecName: Full=Integral membrane protein 2B; AltName: Full=Immature BRI2; Short=imBRI2; AltName: Full=Protein E25B; AltName: Full=Transmembrane protein BRI; Short=Bri; Contains: RecName: Full=BRI2, membrane form; AltName: Full=Mature BRI2; Short=mBRI2; Contains: RecName: Full=BRI2 intracellular domain; Short=BRI2 ICD; Contains: RecName: Full=BRI2C, soluble form; Contains: RecName: Full=Bri23 peptide; Short=Bri2-23; AltName: Full=ABri23; AltName: Full=C-terminal peptide; AltName: Full=P23 peptide
1
0
1
0
0
