|  | 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_037579 | Disease | p.ASP129VAL | Cataract 31, multiple types (CTRCT31) | | Swiss-Prot | VAR_037580 | Disease | p.GLU161LYS | Cataract 31, multiple types (CTRCT31) | | OMIM | 610897.0001 | Disease | p.ASP129VAL | CATARACT 31, MULTIPLE TYPES | | OMIM | 610897.0002 | Disease | p.GLU161LYS | CATARACT 31, POSTERIOR POLAR |
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 |
|
24636296
CHM4B_HUMAN RecName: Full=Charged multivesicular body protein 4b; AltName: Full=Chromatin-modifying protein 4b; Short=CHMP4b; AltName: Full=SNF7 homolog associated with Alix 1; AltName: Full=SNF7-2; Short=hSnf7-2; AltName: Full=Vacuolar protein sorting-associated protein 32-2; Short=Vps32-2; Short=hVps32-2
4
0
2
0
2
