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Known Diseases associated with this Protein: | CORNELIA DE LANGE SYNDROME 4
| CORNELIA DE LANGE SYNDROME 4 (CDLS4)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_068692 | Disease | p.CYS585ARG | Cornelia de Lange syndrome 4 (CDLS4) | Swiss-Prot | VAR_014281 | Polymorphism | p.GLY481ARG | N/A | Swiss-Prot | VAR_068691 | Disease | p.PRO376ARG | Cornelia de Lange syndrome 4 (CDLS4) | OMIM | 606462.0002 | Disease | p.CYS585ARG | CORNELIA DE LANGE SYNDROME 4 | OMIM | 606462.0001 | Disease | p.PRO376ARG | CORNELIA DE LANGE SYNDROME 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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