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Known Diseases associated with this Protein: |  CRANIOSYNOSTOSIS 3
| CRANIOSYNOSTOSIS 3 (CRS3)
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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_070097 | Disease | p.GLN614GLU | Craniosynostosis 3 (CRS3) | | dbSNP | rs12442879 | Polymorphism | p.GLY300SER | N/A | | Swiss-Prot | VAR_070096 | Disease | p.LEU600PRO | Craniosynostosis 3 (CRS3) | | OMIM | 600480.0007 | Disease | p.GLN614GLU | CRANIOSYNOSTOSIS 3 | | OMIM | 600480.0005 | Disease | p.GLU632TER | CRANIOSYNOSTOSIS 3 | | OMIM | 600480.0003 | Disease | p.SER241TER | CRANIOSYNOSTOSIS 3 | | OMIM | 600480.0001 | Disease | p.SER281TER | CRANIOSYNOSTOSIS 3 |
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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1708332
HTF4_HUMAN RecName: Full=Transcription factor 12; Short=TCF-12; AltName: Full=Class B basic helix-loop-helix protein 20; Short=bHLHb20; AltName: Full=DNA-binding protein HTF4; AltName: Full=E-box-binding protein; AltName: Full=Transcription factor HTF-4
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