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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 (MRD6)
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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_065900 | Disease | p.ARG682CYS | Mental retardation, autosomal dominant 6 (MRD6) | | Swiss-Prot | VAR_069384 | Disease | p.PRO553LEU | Mental retardation, autosomal dominant 6 (MRD6) | | Swiss-Prot | VAR_011317 | Polymorphism | p.SER407ASN | N/A | | OMIM | 138252.0003 | Disease | p.ARG682CYS | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 | | OMIM | 138252.0006 | Disease | p.CYS456TYR | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 | | OMIM | 138252.0009 | Disease | p.PRO553LEU | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 | | OMIM | 138252.0008 | Disease | p.TRP559TER | MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 |
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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14548162
NMDE2_HUMAN RecName: Full=Glutamate receptor ionotropic, NMDA 2B; Short=GluN2B; AltName: Full=Glutamate [NMDA] receptor subunit epsilon-2; AltName: Full=N-methyl D-aspartate receptor subtype 2B; Short=NMDAR2B; Short=NR2B; AltName: Full=N-methyl-D-aspartate receptor subunit 3; Short=NR3; Short=hNR3; Flags: Precursor
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