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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 | rs8139305 | Polymorphism | p.ALA259VAL | N/A | Swiss-Prot | VAR_051912 | Disease | p.ALA259VAL | Myopia 6 (MYP6) | Swiss-Prot | VAR_070053 | Disease | p.ARG114HIS | Myopia 6 (MYP6) | dbSNP | rs140523 | Polymorphism | p.ARG20PRO | N/A | Swiss-Prot | VAR_013238 | Disease | p.ARG171TRP | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) | Swiss-Prot | VAR_070054 | Disease | p.CYS133TYR | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) | Swiss-Prot | VAR_008874 | Disease | p.GLU140LYS | Myopia 6 (MYP6) | Swiss-Prot | VAR_008875 | Disease | p.SER225PHE | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1) | OMIM | 604272.0009 | Disease | p.ARG114HIS | MYOPIA 6 | OMIM | 604272.0005 | Disease | p.ARG90TER | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1 | OMIM | 604272.0004 | Disease | p.ARG171TRP | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1 | OMIM | 604272.0007 | Disease | p.CYS133TYR | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1 | OMIM | 604272.0001 | Disease | p.GLN53TER | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1||MYOPIA 6, INCLUDED | OMIM | 604272.0002 | Disease | p.GLU140LYS | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1||MYOPIA 6, INCLUDED | OMIM | 604272.0003 | Disease | p.SER225PHE | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1 | OMIM | 604272.0008 | Disease | p.TRP36TER | CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE||DEFICIENCY 1 |
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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