|
|
|
|
| | 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 ↕ |
---|
OMIM | 179616.0002 | Disease | p.ARG229GLN | SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE||OMENN SYNDROME, INCLUDED | OMIM | 179616.0008 | Disease | p.ARG39GLY | SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE||OMENN SYNDROME, INCLUDED | OMIM | 179616.0003 | Disease | p.CYS41TRP | OMENN SYNDROME | OMIM | 179616.0001 | Disease | p.CYS476TYR | SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE | OMIM | 179616.0010 | Disease | p.GLY451ALA | COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS | OMIM | 179616.0005 | Disease | p.GLY95ARG | OMENN SYNDROME | OMIM | 179616.0004 | Disease | p.MET285ARG | OMENN SYNDROME | OMIM | 179616.0009 | Disease | p.THR77ASN | COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS | OMIM | 179616.0007 | Disease | p.TRP215ILE | SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE |
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 |
|