Known Diseases associated with this Protein: |  CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM
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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 | 641 | 705 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 609948.0001 | Disease | p.ARG751CYS | CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM | | OMIM | 609948.0002 | Disease | p.CYS597TER | 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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46358403
E3 ubiquitin-protein ligase RNF216 isoform a [Homo sapiens]
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