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Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
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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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| Swiss-Prot | VAR_013144 | Polymorphism | p.ARG448GLN | N/A | | Swiss-Prot | VAR_013141 | Polymorphism | p.ARG339TRP | N/A | | Swiss-Prot | VAR_013143 | Polymorphism | p.HIS345ARG | N/A | | Swiss-Prot | VAR_013142 | Polymorphism | p.LYS344GLU | N/A | | OMIM | 604167.0003 | Disease | p.ARG567TRP | MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 |
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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1706179
CTCF_HUMAN RecName: Full=Transcriptional repressor CTCF; AltName: Full=11-zinc finger protein; AltName: Full=CCCTC-binding factor; AltName: Full=CTCFL paralog
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