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Known Diseases associated with this Protein: |  ANGELMAN SYNDROME
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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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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_007853 | Polymorphism | p.ALA201THR | N/A | | Swiss-Prot | VAR_008142 | Polymorphism | p.ARG62HIS | N/A | | Swiss-Prot | VAR_007852 | Polymorphism | p.CYS44TYR | N/A | | Swiss-Prot | VAR_008143 | Polymorphism | p.SER372PRO | N/A | | Swiss-Prot | VAR_047516 | Polymorphism | p.VAL290GLY | N/A | | OMIM | 601623.0004 | Disease | p.ARG417TER | ANGELMAN SYNDROME | | OMIM | 601623.0007 | Disease | p.ILE130THR | ANGELMAN SYNDROME | | OMIM | 601623.0006 | Disease | p.THR106PRO | ANGELMAN SYNDROME | | OMIM | 601623.0005 | Disease | p.TRP768TER | 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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215274240
UBE3A_HUMAN RecName: Full=Ubiquitin-protein ligase E3A; AltName: Full=E6AP ubiquitin-protein ligase; AltName: Full=Human papillomavirus E6-associated protein; AltName: Full=Oncogenic protein-associated protein E6-AP; AltName: Full=Renal carcinoma antigen NY-REN-54
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