|
|
|
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_016023 | Disease | p.ASN98SER | Charcot-Marie-Tooth disease 1F (CMT1F) | Swiss-Prot | VAR_016024 | Polymorphism | p.ASP468ASN | N/A | Swiss-Prot | VAR_009703 | Disease | p.GLN332PRO | Charcot-Marie-Tooth disease 2E (CMT2E) | Swiss-Prot | VAR_021614 | Disease | p.GLU396LYS | Charcot-Marie-Tooth disease 2E (CMT2E) | Swiss-Prot | VAR_016017 | Polymorphism | p.GLU7LYS | N/A | Swiss-Prot | VAR_016022 | Disease | p.GLU90LYS | Charcot-Marie-Tooth disease 1F (CMT1F) | Swiss-Prot | VAR_021613 | Disease | p.LEU336PRO | Charcot-Marie-Tooth disease 2E (CMT2E) | Swiss-Prot | VAR_016020 | Disease | p.PRO8ARG | Charcot-Marie-Tooth disease 2E (CMT2E) | Swiss-Prot | VAR_016019 | Disease | p.PRO8GLN | Charcot-Marie-Tooth disease 1F (CMT1F) | Swiss-Prot | VAR_016018 | Disease | p.PRO8LEU | Charcot-Marie-Tooth disease 1F (CMT1F) | Swiss-Prot | VAR_016021 | Disease | p.PRO22SER | Charcot-Marie-Tooth disease 2E (CMT2E) | OMIM | 162280.0001 | Disease | p.GLN333PRO | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E | OMIM | 162280.0007 | Disease | p.GLU140TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F | OMIM | 162280.0008 | Disease | p.GLU210TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F | OMIM | 162280.0006 | Disease | p.LEU94PRO | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E | OMIM | 162280.0003 | Disease | p.PRO8ARG | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, INCLUDED | OMIM | 162280.0002 | Disease | p.PRO22SER | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E |
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.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|