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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (MRT18)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066596 | Disease | p.PRO617GLN | Mental retardation, autosomal recessive 18 (MRT18) | | dbSNP | rs200660537 | Polymorphism | p.VAL97GLY | N/A | | OMIM | 605042.0001 | Disease | p.ARG617GLN | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
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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28558074
MED23_HUMAN RecName: Full=Mediator of RNA polymerase II transcription subunit 23; AltName: Full=Activator-recruited cofactor 130 kDa component; Short=ARC130; AltName: Full=Cofactor required for Sp1 transcriptional activation subunit 3; Short=CRSP complex subunit 3; AltName: Full=Mediator complex subunit 23; AltName: Full=Protein sur-2 homolog; Short=hSur-2; AltName: Full=Transcriptional coactivator CRSP130; AltName: Full=Vitamin D3 receptor-interacting protein complex 130 kDa component; Short=DRIP130
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