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Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
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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_045672 | Polymorphism | p.ARG4187CYS | N/A | | Swiss-Prot | VAR_045670 | Polymorphism | p.ARG2981HIS | N/A | | Swiss-Prot | VAR_045671 | Polymorphism | p.ARG4013TRP | N/A | | Swiss-Prot | VAR_061986 | Polymorphism | p.ASN483SER | N/A | | OMIM | 300697.0003 | Disease | p.ARG4187CYS | MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE | | OMIM | 300697.0002 | Disease | p.ARG2981HIS | MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE | | OMIM | 300697.0001 | Disease | p.ARG4013TRP | MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE |
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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73915353
HUWE1_HUMAN RecName: Full=E3 ubiquitin-protein ligase HUWE1; AltName: Full=ARF-binding protein 1; Short=ARF-BP1; AltName: Full=HECT, UBA and WWE domain-containing protein 1; AltName: Full=Homologous to E6AP carboxyl terminus homologous protein 9; Short=HectH9; AltName: Full=Large structure of UREB1; Short=LASU1; AltName: Full=Mcl-1 ubiquitin ligase E3; Short=Mule; AltName: Full=Upstream regulatory element-binding protein 1; Short=URE-B1; Short=URE-binding protein 1
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