Known Diseases associated with this Protein: |  HERMANSKY-PUDLAK SYNDROME 2
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 603401.0006 | Disease | p.ARG253TER | HERMANSKY-PUDLAK SYNDROME 2 | | OMIM | 603401.0007 | Disease | p.ARG460TER | HERMANSKY-PUDLAK SYNDROME 2 | | OMIM | 603401.0008 | Disease | p.GLU610TER | HERMANSKY-PUDLAK SYNDROME 2 | | OMIM | 603401.0002 | Disease | p.LEU491ARG | 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 |
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419636284
AP-3 complex subunit beta-1 isoform 2 [Homo sapiens]
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