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Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO-TYPE (MRXSN)
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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_066627 | Disease | p.ARG11GLN | Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) | | Swiss-Prot | VAR_066628 | Disease | p.GLY23ARG | Mental retardation, X-linked, syndromic, Nascimento-type (MRXSN) | | OMIM | 312180.0003 | Disease | p.ARG11GLN | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE | | OMIM | 312180.0001 | Disease | p.GLN128TER | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE | | OMIM | 312180.0002 | Disease | p.GLY23ARG | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE |
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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33518639
UBE2A_HUMAN RecName: Full=Ubiquitin-conjugating enzyme E2 A; AltName: Full=RAD6 homolog A; Short=HR6A; Short=hHR6A; AltName: Full=Ubiquitin carrier protein A; AltName: Full=Ubiquitin-protein ligase A
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