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Known Diseases associated with this Protein: |  PONTOCEREBELLAR HYPOPLASIA 1B (PCH1B)
| PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
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|  | 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. |
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 Default View:
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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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| Swiss-Prot | VAR_068507 | Disease | p.ALA139PRO | Pontocerebellar hypoplasia 1B (PCH1B) | | Swiss-Prot | VAR_068506 | Disease | p.ASP132ALA | Pontocerebellar hypoplasia 1B (PCH1B) | | Swiss-Prot | VAR_068505 | Disease | p.GLY31ALA | Pontocerebellar hypoplasia 1B (PCH1B) | | Swiss-Prot | VAR_068508 | Disease | p.TRP238ARG | Pontocerebellar hypoplasia 1B (PCH1B) | | dbSNP | rs3208406 | Polymorphism | p.TYR225HIS | N/A | | OMIM | 606489.0002 | Disease | p.ALA139PRO | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | | OMIM | 606489.0001 | Disease | p.ASP132ALA | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | | OMIM | 606489.0004 | Disease | p.GLY31ALA | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | | OMIM | 606489.0005 | Disease | p.TRP238ARG | PONTOCEREBELLAR HYPOPLASIA, TYPE 1B |
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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14285758
EXOS3_HUMAN RecName: Full=Exosome complex component RRP40; AltName: Full=Exosome component 3; AltName: Full=Ribosomal RNA-processing protein 40; AltName: Full=p10
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