Known Diseases associated with this Protein: |  PONTOCEREBELLAR HYPOPLASIA, TYPE 8
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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| VPS24 | COG5491 | 2.6e-18 | 10 | 196 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 164010.0001 | Disease | p.GLN36TER | PONTOCEREBELLAR HYPOPLASIA, TYPE 8 |
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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62510514
CHM1A_HUMAN RecName: Full=Charged multivesicular body protein 1a; AltName: Full=Chromatin-modifying protein 1a; Short=CHMP1a; AltName: Full=Vacuolar protein sorting-associated protein 46-1; Short=Vps46-1; Short=hVps46-1
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