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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
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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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| OMIM | 614556.0009 | Disease | p.ARG1075TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | | OMIM | 614556.0003 | Disease | p.ARG1102TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | | OMIM | 614556.0001 | Disease | p.GLN1307TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | | OMIM | 614556.0006 | Disease | p.GLN635TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | | OMIM | 614556.0008 | Disease | p.LYS1777TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | | OMIM | 614556.0005 | Disease | p.TYR1346TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 |
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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297207099
AT-rich interactive domain-containing protein 1B isoform 2 [Homo sapiens]
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