Known Diseases associated with this Protein: |  ANGELMAN SYNDROME
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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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| OMIM | 601623.0004 | Disease | p.ARG394TER | ANGELMAN SYNDROME | | OMIM | 601623.0007 | Disease | p.ILE107THR | ANGELMAN SYNDROME | | OMIM | 601623.0006 | Disease | p.THR83PRO | ANGELMAN SYNDROME | | OMIM | 601623.0005 | Disease | p.TRP745TER | ANGELMAN SYNDROME |
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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19718762
ubiquitin-protein ligase E3A isoform 1 [Homo sapiens]
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