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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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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_025360 | Polymorphism | p.ALA444SER | N/A | Swiss-Prot | VAR_025361 | Polymorphism | p.ALA445THR | N/A | Swiss-Prot | VAR_025357 | Polymorphism | p.ALA238VAL | N/A | Swiss-Prot | VAR_066026 | Disease | p.ARG239CYS | Renal cell carcinoma (RCC) | Swiss-Prot | VAR_066027 | Polymorphism | p.ARG362CYS | N/A | Swiss-Prot | VAR_025358 | Polymorphism | p.ARG320GLN | N/A | Swiss-Prot | VAR_025359 | Polymorphism | p.ARG392GLY | N/A | Swiss-Prot | VAR_066024 | Disease | p.GLU132LYS | Primary spontaneous pneumothorax (PSP) | Swiss-Prot | VAR_066028 | Disease | p.HIS429TYR | Primary spontaneous pneumothorax (PSP) | Swiss-Prot | VAR_066029 | Disease | p.LYS508ARG | Birt-Hogg-Dube syndrome (BHD) | Swiss-Prot | VAR_066023 | Disease | p.SER108ILE | Birt-Hogg-Dube syndrome (BHD) | Swiss-Prot | VAR_025356 | Polymorphism | p.SER79TRP | N/A | OMIM | 607273.0008 | Disease | p.ALA445THR | COLORECTAL CANCER, SOMATIC | OMIM | 607273.0007 | Disease | p.SER79TRP | COLORECTAL CANCER, SOMATIC | OMIM | 607273.0005 | Disease | p.TYR463TER | BIRT-HOGG-DUBE SYNDROME |
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.
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