|
|
|---|
 |
|
Known Diseases associated with this Protein: |  HERMANSKY-PUDLAK SYNDROME 2
| HERMANSKY-PUDLAK SYNDROME 2 (HPS2)
|
|  | 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 ↕ |
|---|
| dbSNP | rs62001053 | Polymorphism | p.ALA113VAL | N/A | | Swiss-Prot | VAR_011596 | Disease | p.LEU580ARG | Hermansky-Pudlak syndrome 2 (HPS2) | | dbSNP | rs6453373 | Polymorphism | p.VAL585GLU | N/A | | OMIM | 603401.0006 | Disease | p.ARG302TER | HERMANSKY-PUDLAK SYNDROME 2 | | OMIM | 603401.0007 | Disease | p.ARG509TER | HERMANSKY-PUDLAK SYNDROME 2 | | OMIM | 603401.0008 | Disease | p.GLU659TER | HERMANSKY-PUDLAK SYNDROME 2 | | OMIM | 603401.0002 | Disease | p.LEU540ARG | HERMANSKY-PUDLAK SYNDROME 2 |
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 |
|
254763431
AP3B1_HUMAN RecName: Full=AP-3 complex subunit beta-1; AltName: Full=Adapter-related protein complex 3 subunit beta-1; AltName: Full=Adaptor protein complex AP-3 subunit beta-1; AltName: Full=Beta-3A-adaptin; AltName: Full=Clathrin assembly protein complex 3 beta-1 large chain
5
2
4
2
1
