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Known Diseases associated with this Protein: |  JOUBERT SYNDROME 3
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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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| dbSNP | rs6940875 | Polymorphism | p.GLN1018PRO | N/A | | OMIM | 608894.0006 | Disease | p.ARG723GLN | JOUBERT SYNDROME 3 | | OMIM | 608894.0009 | Disease | p.ARG495HIS | JOUBERT SYNDROME 3 | | OMIM | 608894.0010 | Disease | p.ARG351LEU | JOUBERT SYNDROME 3 | | OMIM | 608894.0008 | Disease | p.ARG329TER | JOUBERT SYNDROME 3 | | OMIM | 608894.0001 | Disease | p.ARG351TER | JOUBERT SYNDROME 3 | | OMIM | 608894.0002 | Disease | p.ARG435TER | JOUBERT SYNDROME 3 | | OMIM | 608894.0005 | Disease | p.ARG589TER | JOUBERT SYNDROME 3 | | OMIM | 608894.0003 | Disease | p.VAL443ASP | JOUBERT SYNDROME 3 |
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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199559532
jouberin isoform b [Homo sapiens]
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