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Known Diseases associated with this Protein: | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 (MRD5)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_065079 | Polymorphism | p.ARG749GLN | N/A | Swiss-Prot | VAR_065078 | Polymorphism | p.ASP201GLU | N/A | Swiss-Prot | VAR_065081 | Polymorphism | p.GLY991ARG | N/A | Swiss-Prot | VAR_065082 | Polymorphism | p.ILE1115THR | N/A | Swiss-Prot | VAR_065083 | Polymorphism | p.PRO1283LEU | N/A | Swiss-Prot | VAR_069233 | Disease | p.PRO562LEU | Mental retardation, autosomal dominant 5 (MRD5) | Swiss-Prot | VAR_065080 | Polymorphism | p.THR790ASN | N/A | Swiss-Prot | VAR_065084 | Polymorphism | p.THR1310MET | N/A | Swiss-Prot | VAR_069232 | Disease | p.TRP362ARG | Mental retardation, autosomal dominant 5 (MRD5) | OMIM | 603384.0010 | Disease | p.ARG143TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | OMIM | 603384.0002 | Disease | p.ARG579TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | OMIM | 603384.0001 | Disease | p.LYS138TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | OMIM | 603384.0008 | Disease | p.PRO562LEU | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | OMIM | 603384.0007 | Disease | p.TRP362ARG | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | OMIM | 603384.0009 | Disease | p.TRP267TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 |
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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