|
|
|
|
Known Diseases associated with this Protein: | AORTIC ANEURYSM, FAMILIAL THORACIC 7
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs77323602 | Polymorphism | p.ARG506GLY | N/A | dbSNP | rs3732487 | Polymorphism | p.ASP914GLU | N/A | dbSNP | rs12172926 | Polymorphism | p.GLU1009ASP | N/A | dbSNP | rs3732486 | Polymorphism | p.LEU861PRO | N/A | dbSNP | rs28497577 | Polymorphism | p.PRO21HIS | N/A | dbSNP | rs9840993 | Polymorphism | p.PRO147SER | N/A | dbSNP | rs75370906 | Polymorphism | p.THR1085ALA | N/A | dbSNP | rs3796164 | Polymorphism | p.VAL261ALA | N/A | dbSNP | rs34542174 | Polymorphism | p.VAL877MET | N/A | OMIM | 600922.0002 | Disease | p.ARG1480TER | AORTIC ANEURYSM, FAMILIAL THORACIC 7 | OMIM | 600922.0001 | Disease | p.SER1708PRO | AORTIC ANEURYSM, FAMILIAL THORACIC 7 |
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 |
|