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Known Diseases associated with this Protein: |  CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
| CRANIOSYNOSTOSIS AND DENTAL ANOMALIES (CRSDA)
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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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| FN3 | smart00060 | 0.00052 | 218 | 302 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066668 | Disease | p.ARG296TRP | Craniosynostosis and dental anomalies (CRSDA) | | Swiss-Prot | VAR_019822 | Polymorphism | p.ARG395TRP | N/A | | Swiss-Prot | VAR_066666 | Disease | p.PRO221ARG | Craniosynostosis and dental anomalies (CRSDA) | | Swiss-Prot | VAR_019821 | Polymorphism | p.PRO65THR | N/A | | Swiss-Prot | VAR_066667 | Disease | p.SER245CYS | Craniosynostosis and dental anomalies (CRSDA) | | OMIM | 600939.0001 | Disease | p.ARG296TRP | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES | | OMIM | 600939.0004 | Disease | p.GLN159TER | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES | | OMIM | 600939.0002 | Disease | p.PRO221ARG | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES | | OMIM | 600939.0003 | Disease | p.SER245CYS | CRANIOSYNOSTOSIS AND DENTAL ANOMALIES |
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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55976300
I11RA_HUMAN RecName: Full=Interleukin-11 receptor subunit alpha; Short=IL-11 receptor subunit alpha; Short=IL-11R subunit alpha; Short=IL-11R-alpha; Short=IL-11RA; Flags: Precursor
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