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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_065728 | Polymorphism | p.ALA635GLY | N/A | Swiss-Prot | VAR_065734 | Polymorphism | p.ALA837GLY | N/A | Swiss-Prot | VAR_057773 | Polymorphism | p.ALA960PRO | N/A | dbSNP | rs10151259 | Disease | p.ALA547SER | Cone-rod dystrophy 13 (CORD13) | Swiss-Prot | VAR_065736 | Polymorphism | p.ALA841THR | N/A | Swiss-Prot | VAR_065722 | Polymorphism | p.ALA318VAL | N/A | Swiss-Prot | VAR_065730 | Polymorphism | p.ALA764VAL | N/A | Swiss-Prot | VAR_065726 | Polymorphism | p.ARG598GLN | N/A | Swiss-Prot | VAR_065737 | Polymorphism | p.ARG852GLN | N/A | Swiss-Prot | VAR_065732 | Polymorphism | p.ARG812HIS | N/A | Swiss-Prot | VAR_065733 | Polymorphism | p.ARG814LEU | N/A | Swiss-Prot | VAR_017834 | Disease | p.ARG827LEU | Cone-rod dystrophy 13 (CORD13) | Swiss-Prot | VAR_065723 | Polymorphism | p.ARG363THR | N/A | dbSNP | rs17103671 | Disease | p.ASP1114GLY | Leber congenital amaurosis 6 (LCA6) | Swiss-Prot | VAR_065727 | Polymorphism | p.CYS603SER | N/A | Swiss-Prot | VAR_065725 | Polymorphism | p.GLN589HIS | N/A | dbSNP | rs3748361 | Polymorphism | p.GLU1033GLN | N/A | Swiss-Prot | VAR_067188 | Polymorphism | p.GLU1130GLN | N/A | Swiss-Prot | VAR_065738 | Polymorphism | p.GLY883ASP | N/A | dbSNP | rs34725281 | Polymorphism | p.GLY1240GLU | N/A | Swiss-Prot | VAR_017833 | Disease | p.GLY746GLU | Leber congenital amaurosis 6 (LCA6) | Swiss-Prot | VAR_067187 | Polymorphism | p.HIS1057LEU | N/A | Swiss-Prot | VAR_067186 | Disease | p.HIS631PRO | Leber congenital amaurosis 6 (LCA6) | Swiss-Prot | VAR_065735 | Polymorphism | p.ILE838VAL | N/A | dbSNP | rs6571751 | Polymorphism | p.LYS192GLU | N/A | Swiss-Prot | VAR_065720 | Polymorphism | p.MET32LEU | N/A | Swiss-Prot | VAR_057772 | Polymorphism | p.PRO96GLN | N/A | Swiss-Prot | VAR_065724 | Polymorphism | p.PRO585SER | N/A | Swiss-Prot | VAR_065721 | Polymorphism | p.SER135ARG | N/A | Swiss-Prot | VAR_017832 | Polymorphism | p.SER601LEU | N/A | Swiss-Prot | VAR_067184 | Polymorphism | p.SER432PHE | N/A | Swiss-Prot | VAR_067185 | Polymorphism | p.SER601TRP | N/A | Swiss-Prot | VAR_065729 | Polymorphism | p.THR638ILE | N/A | Swiss-Prot | VAR_065731 | Polymorphism | p.THR806ILE | N/A | OMIM | 605446.0006 | Disease | p.ALA547SER | CONE-ROD DYSTROPHY 13 | OMIM | 605446.0005 | Disease | p.ARG827LEU | CONE-ROD DYSTROPHY 13 | OMIM | 605446.0007 | Disease | p.ASP1114GLY | LEBER CONGENITAL AMAUROSIS 6 | OMIM | 605446.0002 | Disease | p.TRP65TER | LEBER CONGENITAL AMAUROSIS 6 |
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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