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Known Diseases associated with this Protein: |  MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME (MMFD)
| OVERGROWTH SYNDROME, RNF135-RELATED
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_037652 | Disease | p.ARG286HIS | Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD) | | Swiss-Prot | VAR_063495 | Polymorphism | p.ARG115LYS | N/A | | dbSNP | rs7225888 | Polymorphism | p.HIS71GLN | N/A | | dbSNP | rs7211440 | Polymorphism | p.SER108PRO | N/A | | Swiss-Prot | VAR_063496 | Polymorphism | p.TRP415CYS | N/A | | OMIM | 611358.0004 | Disease | p.ARG286HIS | OVERGROWTH SYNDROME, RNF135-RELATED | | OMIM | 611358.0001 | Disease | p.GLN243TER | OVERGROWTH SYNDROME, RNF135-RELATED |
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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269849639
RN135_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF135; AltName: Full=RIG-I E3 ubiquitin ligase; Short=REUL; AltName: Full=RING finger protein 135; AltName: Full=Riplet
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