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Known Diseases associated with this Protein: |  CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
| CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM (CAHH)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| IBR | smart00647 | 7.2e-05 | 584 | 648 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_070048 | Disease | p.ARG660CYS | Cerebellar ataxia and hypogonadotropic hypogonadism (CAHH) | | Swiss-Prot | VAR_070049 | Disease | p.ARG694CYS | Cerebellar ataxia and hypogonadotropic hypogonadism (CAHH) | | OMIM | 609948.0001 | Disease | p.ARG694CYS | CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM | | OMIM | 609948.0002 | Disease | p.CYS540TER | CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM |
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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57015417
RN216_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF216; AltName: Full=RING finger protein 216; AltName: Full=Triad domain-containing protein 3; AltName: Full=Ubiquitin-conjugating enzyme 7-interacting protein 1; AltName: Full=Zinc finger protein inhibiting NF-kappa-B
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