|
|
|
|
Known Diseases associated with this Protein: | BARDET-BIEDL SYNDROME 5
| BARDET-BIEDL SYNDROME 5 (BBS5)
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_025317 | Polymorphism | p.ARG207HIS | N/A | Swiss-Prot | VAR_066291 | Polymorphism | p.ASN251ASP | N/A | Swiss-Prot | VAR_025316 | Polymorphism | p.ASN184SER | N/A | Swiss-Prot | VAR_066290 | Disease | p.GLY72SER | Bardet-Biedl syndrome 5 (BBS5) | OMIM | 603650.0005 | Disease | p.GLY72SER | BARDET-BIEDL SYNDROME 5 | OMIM | 603650.0002 | Disease | p.LEU142TER | BARDET-BIEDL SYNDROME 5 | OMIM | 603650.0006 | Disease | p.THR183ALA | BARDET-BIEDL SYNDROME 5 | OMIM | 603650.0004 | Disease | p.TRP59TER | BARDET-BIEDL SYNDROME 5 |
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 |
|