|
|
|---|
 |
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_009078 | Disease | p.ALA17THR | Hirschsprung disease 4 (HSCR4) | | Swiss-Prot | VAR_009079 | Disease | p.ALA224THR | Hirschsprung disease 4 (HSCR4) | | Swiss-Prot | VAR_002353 | Disease | p.CYS159PHE | Waardenburg syndrome 4B (WS4B) | | Swiss-Prot | VAR_015238 | Disease | p.TYR127CYS | Waardenburg syndrome 4B (WS4B) | | OMIM | 131242.0004 | Disease | p.ALA17THR | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 | | OMIM | 131242.0005 | Disease | p.ALA224THR | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 | | OMIM | 131242.0009 | Disease | p.ARG93GLY | WAARDENBURG SYNDROME TYPE 4B | | OMIM | 131242.0002 | Disease | p.CYS159PHE | WAARDENBURG SYNDROME TYPE 4B | | OMIM | 131242.0007 | Disease | p.CYS169TER | WAARDENBURG SYNDROME TYPE 4B | | OMIM | 131242.0008 | Disease | p.HIS112ARG | WAARDENBURG SYNDROME TYPE 4B |
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 |
|
119618
EDN3_HUMAN RecName: Full=Endothelin-3; Short=ET-3; AltName: Full=Preproendothelin-3; Short=PPET3; Flags: Precursor
10
0
6
0
4
