|
|
|---|
 |
|
Known Diseases associated with this Protein: |  MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
|
|  | 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 ↕ |
|---|
| OMIM | 603892.0001 | Disease | p.ARG227TRP | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0002 | Disease | p.GLN889TER | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0007 | Disease | p.HIS173ARG | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0005 | Disease | p.LEU602ARG | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0004 | Disease | p.TYR796TER | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE | | OMIM | 603892.0006 | Disease | p.TYR797TER | MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE |
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 |
|
217272894
116 kDa U5 small nuclear ribonucleoprotein component isoform b [Homo sapiens]
6
0
6
0
0
