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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL DOMINANT 3
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (MRD3)
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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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| dbSNP | rs2287359 | Polymorphism | p.ALA37SER | N/A | | Swiss-Prot | VAR_054969 | Disease | p.ALA122VAL | Mental retardation, autosomal dominant 3 (MRD3) | | Swiss-Prot | VAR_054967 | Disease | p.ARG60CYS | Mental retardation, autosomal dominant 3 (MRD3) | | Swiss-Prot | VAR_054968 | Disease | p.ARG92TRP | Mental retardation, autosomal dominant 3 (MRD3) | | dbSNP | rs75791347 | Polymorphism | p.LYS584GLN | N/A | | Swiss-Prot | VAR_054966 | Polymorphism | p.VAL8LEU | N/A | | OMIM | 114019.0003 | Disease | p.ALA122VAL | MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 | | OMIM | 114019.0001 | Disease | p.ARG60CYS | MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 | | OMIM | 114019.0002 | Disease | p.ARG92TRP | MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 |
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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1705553
CAD15_HUMAN RecName: Full=Cadherin-15; AltName: Full=Cadherin-14; AltName: Full=Muscle cadherin; Short=M-cadherin; Flags: Precursor
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