|
|
|
|
| | 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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
---|
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_068454 | Disease | p.CYS268TYR | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_012289 | Disease | p.GLU213GLY | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_068453 | Disease | p.GLY200VAL | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_012322 | Disease | p.GLY329VAL | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_012321 | Disease | p.LYS273ARG | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_068452 | Disease | p.PRO196SER | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_016842 | Disease | p.SER171PHE | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_012290 | Disease | p.VAL316ASP | Leukodystrophy with vanishing white matter (VWM) | Swiss-Prot | VAR_068451 | Disease | p.VAL85GLU | Leukodystrophy with vanishing white matter (VWM) | OMIM | 606454.0003 | Disease | p.ARG183TER | OVARIOLEUKODYSTROPHY | OMIM | 606454.0001 | Disease | p.GLU213GLY | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER||OVARIOLEUKODYSTROPHY, INCLUDED | OMIM | 606454.0004 | Disease | p.SER171PHE | OVARIOLEUKODYSTROPHY | OMIM | 606454.0002 | Disease | p.VAL316ASP | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER | OMIM | 606454.0006 | Disease | p.VAL85GLU | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ADULT-ONSET |
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 |
|