|
|
|
|
Known Diseases associated with this Protein: | COMPLEMENT FACTOR I DEFICIENCY (CFI DEFICIENCY)
| HEMOLYTIC UREMIC SYNDROME ATYPICAL 3 (AHUS3)
|
| | 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 ↕ |
---|
Swiss-Prot | VAR_063669 | Disease | p.ARG317TRP | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_063671 | Disease | p.ASP519ASN | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_030344 | Disease | p.ASP524VAL | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_063666 | Disease | p.GLY119ARG | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_063668 | Disease | p.GLY287ARG | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_034907 | Disease | p.GLY243ASP | Complement factor I deficiency (CFI deficiency) | Swiss-Prot | VAR_063667 | Disease | p.HIS183ARG | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_026757 | Disease | p.HIS418LEU | Complement factor I deficiency (CFI deficiency) | Swiss-Prot | VAR_063670 | Disease | p.ILE416LEU | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_030343 | Disease | p.ILE340THR | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_063672 | Disease | p.LYS522THR | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_063665 | Disease | p.PRO64LEU | Hemolytic uremic syndrome atypical 3 (AHUS3) | Swiss-Prot | VAR_034908 | Polymorphism | p.THR300ALA | N/A |
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 |
|