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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 (MRD4)
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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_054829 | Disease | p.ARG336GLN | Mental retardation, autosomal dominant 4 (MRD4) | | Swiss-Prot | VAR_054828 | Disease | p.ARG40TRP | Mental retardation, autosomal dominant 4 (MRD4) | | dbSNP | rs111418068 | Polymorphism | p.ILE190VAL | N/A | | Swiss-Prot | VAR_054830 | Disease | p.VAL731PHE | Mental retardation, autosomal dominant 4 (MRD4) | | OMIM | 607761.0002 | Disease | p.ARG336GLN | MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 | | OMIM | 607761.0001 | Disease | p.ARG40TRP | MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 | | OMIM | 607761.0003 | Disease | p.VAL731PHE | MENTAL RETARDATION, AUTOSOMAL DOMINANT 4 |
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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55736065
KIRR3_HUMAN RecName: Full=Kin of IRRE-like protein 3; AltName: Full=Kin of irregular chiasm-like protein 3; AltName: Full=Nephrin-like protein 2; Flags: Precursor
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