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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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Swiss-Prot | VAR_006194 | Disease | p.ALA225VAL | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_040631 | Polymorphism | p.ARG723CYS | N/A | Swiss-Prot | VAR_006197 | Disease | p.ARG729GLN | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_006191 | Disease | p.ARG114TRP | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_065897 | Disease | p.ARG383TRP | Mental retardation, X-linked 19 (MRX19) | Swiss-Prot | VAR_006193 | Disease | p.ASP154TYR | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_006196 | Disease | p.GLY431ASP | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_006189 | Disease | p.GLY75VAL | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_006192 | Disease | p.HIS127GLN | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_065894 | Disease | p.ILE189LYS | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_006188 | Polymorphism | p.ILE38SER | N/A | Swiss-Prot | VAR_035627 | Polymorphism | p.ILE416VAL | N/A | Swiss-Prot | VAR_040630 | Polymorphism | p.LEU608PHE | N/A | Swiss-Prot | VAR_065896 | Disease | p.PHE268SER | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_006195 | Disease | p.SER227ALA | Coffin-Lowry syndrome (CLS) | Swiss-Prot | VAR_065892 | Disease | p.THR115SER | Mental retardation, X-linked 19 (MRX19) | Swiss-Prot | VAR_040629 | Polymorphism | p.TYR483CYS | N/A | Swiss-Prot | VAR_006190 | Disease | p.VAL82PHE | Coffin-Lowry syndrome (CLS) | OMIM | 300075.0009 | Disease | p.ARG729GLN | COFFIN-LOWRY SYNDROME | OMIM | 300075.0006 | Disease | p.ARG114TRP | COFFIN-LOWRY SYNDROME | OMIM | 300075.0010 | Disease | p.ARG383TRP | MENTAL RETARDATION, X-LINKED 19 | OMIM | 300075.0008 | Disease | p.GLN689TER | COFFIN-LOWRY SYNDROME | OMIM | 300075.0002 | Disease | p.GLY75VAL | COFFIN-LOWRY SYNDROME | OMIM | 300075.0011 | Disease | p.ILE189LYS | COFFIN-LOWRY SYNDROME, MILD | OMIM | 300075.0017 | Disease | p.PHE268SER | COFFIN-LOWRY SYNDROME | OMIM | 300075.0003 | Disease | p.SER227ALA | COFFIN-LOWRY SYNDROME | OMIM | 300075.0021 | Disease | p.THR115SER | MENTAL RETARDATION, X-LINKED 19 | OMIM | 300075.0004 | Disease | p.VAL82PHE | COFFIN-LOWRY 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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