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Known Diseases associated with this Protein: |  CRANIOSYNOSTOSIS 4
| CRANIOSYNOSTOSIS 4 (CRS4)
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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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| ETS | smart00413 | 4.4e-52 | 26 | 111 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_070099 | Disease | p.ARG86CYS | Craniosynostosis 4 (CRS4) | | Swiss-Prot | VAR_070098 | Disease | p.ARG65GLN | Craniosynostosis 4 (CRS4) | | Swiss-Prot | VAR_048947 | Polymorphism | p.ARG205HIS | N/A | | OMIM | 611888.0003 | Disease | p.ARG86CYS | CRANIOSYNOSTOSIS 4 | | OMIM | 611888.0004 | Disease | p.ARG65GLN | CRANIOSYNOSTOSIS 4 | | OMIM | 611888.0001 | Disease | p.ARG183TER | CRANIOSYNOSTOSIS 4 | | OMIM | 611888.0005 | Disease | p.GLN424TER | CRANIOSYNOSTOSIS 4 |
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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50403684
ERF_HUMAN RecName: Full=ETS domain-containing transcription factor ERF; AltName: Full=Ets2 repressor factor; AltName: Full=PE-2
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