|
|
|
|
Known Diseases associated with this Protein: | IRAK4 DEFICIENCY
|
| | 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 | rs4251545 | Polymorphism | p.ALA428THR | N/A | Swiss-Prot | VAR_040590 | Polymorphism | p.ARG391HIS | N/A | Swiss-Prot | VAR_019355 | Polymorphism | p.HIS390ARG | N/A | Swiss-Prot | VAR_040588 | Polymorphism | p.ILE5VAL | N/A | Swiss-Prot | VAR_040589 | Polymorphism | p.MET355VAL | N/A | Swiss-Prot | VAR_019354 | Polymorphism | p.SER98ARG | N/A | OMIM | 606883.0006 | Disease | p.ARG12CYS | IRAK4 DEFICIENCY | OMIM | 606883.0002 | Disease | p.GLN293TER | IRAK4 DEFICIENCY |
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 |
|