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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_066594 | Disease | p.ALA13ASP | Mental retardation, autosomal recessive 12 (MRT12) | Swiss-Prot | VAR_069319 | Disease | p.ALA320PRO | Epileptic encephalopathy, early infantile, 15 (EIEE15) | Swiss-Prot | VAR_066595 | Disease | p.ASP370TYR | Mental retardation, autosomal recessive 12 (MRT12) | OMIM | 606494.0001 | Disease | p.ALA13ASP | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | OMIM | 606494.0003 | Disease | p.ALA251PRO | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | OMIM | 606494.0002 | Disease | p.ASP301TYR | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 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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