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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_058729 | Polymorphism | p.ARG127HIS | N/A | Swiss-Prot | VAR_058734 | Polymorphism | p.ARG169PRO | N/A | Swiss-Prot | VAR_058733 | Polymorphism | p.GLY165ARG | N/A | Swiss-Prot | VAR_058731 | Polymorphism | p.GLY149ASP | N/A | Swiss-Prot | VAR_007816 | Polymorphism | p.ILE126MET | N/A | Swiss-Prot | VAR_007945 | Polymorphism | p.ILE87MET | N/A | Swiss-Prot | VAR_058726 | Polymorphism | p.ILE91SER | N/A | Swiss-Prot | VAR_058727 | Polymorphism | p.ILE91THR | N/A | Swiss-Prot | VAR_058730 | Disease | p.LEU130PHE | Axenfeld-Rieger syndrome 3 (RIEG3) | Swiss-Prot | VAR_058725 | Polymorphism | p.LEU86PHE | N/A | Swiss-Prot | VAR_018150 | Polymorphism | p.MET161LYS | N/A | Swiss-Prot | VAR_058732 | Polymorphism | p.MET161VAL | N/A | Swiss-Prot | VAR_007815 | Disease | p.PHE112SER | Peters anomaly (PAN) | Swiss-Prot | VAR_058723 | Polymorphism | p.PRO79ARG | N/A | Swiss-Prot | VAR_058722 | Polymorphism | p.PRO79LEU | N/A | Swiss-Prot | VAR_058724 | Polymorphism | p.PRO79THR | N/A | Swiss-Prot | VAR_007817 | Polymorphism | p.SER131LEU | N/A | Swiss-Prot | VAR_007944 | Polymorphism | p.SER82THR | N/A | Swiss-Prot | VAR_058728 | Polymorphism | p.TYR115SER | N/A | OMIM | 601090.0011 | Disease | p.GLN120TER | AXENFELD-RIEGER SYNDROME, TYPE 3||PETERS ANOMALY, INCLUDED | OMIM | 601090.0005 | Disease | p.GLN23TER | AXENFELD-RIEGER SYNDROME, TYPE 3 | OMIM | 601090.0003 | Disease | p.ILE126MET | AXENFELD ANOMALY | OMIM | 601090.0009 | Disease | p.ILE87MET | AXENFELD-RIEGER ANOMALY | OMIM | 601090.0010 | Disease | p.LEU130PHE | AXENFELD-RIEGER SYNDROME, TYPE 3 | OMIM | 601090.0004 | Disease | p.PHE112SER | RIEGER ANOMALY||AXENFELD ANOMALY, INCLUDED;;||AXENFELD-RIEGER SYNDROME, TYPE 3, INCLUDED;;||PETERS ANOMALY, INCLUDED | OMIM | 601090.0012 | Disease | p.PRO297SER | IRIDOGONIODYSGENESIS, TYPE 1 | OMIM | 601090.0002 | Disease | p.SER131LEU | RIEGER ANOMALY | OMIM | 601090.0008 | Disease | p.SER82THR | AXENFELD-RIEGER SYNDROME, TYPE 3 |
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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