|
|
|---|
 |
|
|  | 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 ↕ |
|---|
| dbSNP | rs2289080 | Polymorphism | p.ALA149THR | N/A | | Swiss-Prot | VAR_030755 | Disease | p.ARG239CYS | Multiple pterygium syndrome, lethal type (LMPS) | | Swiss-Prot | VAR_030753 | Disease | p.VAL107GLY | Multiple pterygium syndrome, lethal type (LMPS) | | OMIM | 100730.0002 | Disease | p.ARG217CYS | ESCOBAR SYNDROME||MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, INCLUDED | | OMIM | 100730.0004 | Disease | p.ARG448TER | ESCOBAR SYNDROME | | OMIM | 100730.0006 | Disease | p.ARG46TER | ESCOBAR SYNDROME | | OMIM | 100730.0001 | Disease | p.GLN18TER | ESCOBAR SYNDROME |
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 |
|
126302510
ACHG_HUMAN RecName: Full=Acetylcholine receptor subunit gamma; Flags: Precursor
6
1
4
1
2
