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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs45517323 | Polymorphism | p.ARG1306HIS | N/A | dbSNP | rs1748 | Polymorphism | p.ASP1711GLU | N/A | dbSNP | rs62642481 | Polymorphism | p.GLU1284LYS | N/A | dbSNP | rs1800748 | Polymorphism | p.MET286VAL | N/A | dbSNP | rs9209 | Polymorphism | p.SER1751THR | N/A | OMIM | 191092.0006 | Disease | p.ARG611GLN | TUBEROUS SCLEROSIS 2||LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED | OMIM | 191092.0013 | Disease | p.ARG905GLN | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0015 | Disease | p.ARG905GLY | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0005 | Disease | p.ARG505TER | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0014 | Disease | p.ARG905TRP | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0011 | Disease | p.GLN1480PRO | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0008 | Disease | p.GLN478TER | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0010 | Disease | p.GLU366TER | LYMPHANGIOLEIOMYOMATOSIS, SOMATIC | OMIM | 191092.0007 | Disease | p.LEU717ARG | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0003 | Disease | p.LYS12TER | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0009 | Disease | p.PRO1652LEU | TUBEROUS SCLEROSIS 2 | OMIM | 191092.0017 | Disease | p.TRP441TER | TUBEROUS SCLEROSIS 2 |
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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