|
|
|
|
Known Diseases associated with this Protein: | RAINE SYNDROME
| RAINE SYNDROME (RNS)
|
| | 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_037533 | Disease | p.ARG549TRP | Raine syndrome (RNS) | Swiss-Prot | VAR_037531 | Disease | p.GLY379ARG | Raine syndrome (RNS) | Swiss-Prot | VAR_037530 | Disease | p.GLY379GLU | Raine syndrome (RNS) | Swiss-Prot | VAR_037532 | Disease | p.LEU388ARG | Raine syndrome (RNS) | OMIM | 611061.0003 | Disease | p.ARG535TRP | RAINE SYNDROME | OMIM | 611061.0009 | Disease | p.ASP437ASN | RAINE SYNDROME | OMIM | 611061.0011 | Disease | p.GLY266ARG | RAINE SYNDROME | OMIM | 611061.0001 | Disease | p.GLY365ARG | RAINE SYNDROME | OMIM | 611061.0005 | Disease | p.GLY365GLU | RAINE SYNDROME | OMIM | 611061.0010 | Disease | p.ILE244ASN | RAINE SYNDROME | OMIM | 611061.0002 | Disease | p.LEU374ARG | RAINE SYNDROME | OMIM | 611061.0012 | Disease | p.PRO314SER | RAINE 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 |
|