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Known Diseases associated with this Protein: | COLORECTAL CANCER, SOMATIC
| RUBINSTEIN-TAYBI SYNDROME 2
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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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dbSNP | rs1046088 | Polymorphism | p.GLN2223PRO | N/A | Swiss-Prot | VAR_014429 | Polymorphism | p.GLU1013GLY | N/A | dbSNP | rs20551 | Polymorphism | p.ILE997VAL | N/A | Swiss-Prot | VAR_014428 | Polymorphism | p.LEU827PRO | N/A | Swiss-Prot | VAR_055554 | Polymorphism | p.MET289VAL | N/A | Swiss-Prot | VAR_014431 | Polymorphism | p.PRO2221GLN | N/A | Swiss-Prot | VAR_014430 | Polymorphism | p.SER1650TYR | N/A | Swiss-Prot | VAR_038376 | Polymorphism | p.THR2174SER | N/A | OMIM | 602700.0001 | Disease | p.ARG580TER | COLORECTAL CANCER, SOMATIC | OMIM | 602700.0003 | Disease | p.ARG648TER | RUBINSTEIN-TAYBI SYNDROME 2 | OMIM | 602700.0002 | Disease | p.PRO2221GLN | COLORECTAL CANCER, SOMATIC |
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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