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Known Diseases associated with this Protein: |  BRANCHIOOCULOFACIAL SYNDROME
| BRANCHIOOCULOFACIAL SYNDROME (BOFS)
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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_045839 | Disease | p.ARG254GLY | Branchiooculofacial syndrome (BOFS) | | Swiss-Prot | VAR_045840 | Disease | p.ARG255GLY | Branchiooculofacial syndrome (BOFS) | | Swiss-Prot | VAR_045841 | Disease | p.GLY262GLU | Branchiooculofacial syndrome (BOFS) | | Swiss-Prot | VAR_045838 | Disease | p.LEU249PRO | Branchiooculofacial syndrome (BOFS) | | OMIM | 107580.0007 | Disease | p.ARG237GLN | BRANCHIOOCULOFACIAL SYNDROME | | OMIM | 107580.0001 | Disease | p.ARG255GLY | BRANCHIOOCULOFACIAL SYNDROME | | OMIM | 107580.0006 | Disease | p.GLU269LYS | BRANCHIOOCULOFACIAL SYNDROME | | OMIM | 107580.0002 | Disease | p.GLY262GLU | BRANCHIOOCULOFACIAL SYNDROME | | OMIM | 107580.0004 | Disease | p.PHE319SER | BRANCHIOOCULOFACIAL SYNDROME |
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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135302
AP2A_HUMAN RecName: Full=Transcription factor AP-2-alpha; Short=AP2-alpha; AltName: Full=AP-2 transcription factor; AltName: Full=Activating enhancer-binding protein 2-alpha; AltName: Full=Activator protein 2; Short=AP-2
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