|
|
|
|
Known Diseases associated with this Protein: | ISOLATED SULFITE OXIDASE DEFICIENCY (ISOD)
| SULFITE OXIDASE DEFICIENCY, ISOLATED
|
| | 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_002201 | Disease | p.ALA265ASP | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_002200 | Disease | p.ARG217GLN | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015725 | Disease | p.ARG268GLN | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015727 | Disease | p.ARG366HIS | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015729 | Disease | p.GLN396ARG | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_002203 | Disease | p.GLY530ASP | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015726 | Disease | p.GLY362SER | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015724 | Disease | p.ILE258LEU | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015728 | Disease | p.LYS379ARG | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_002202 | Disease | p.SER427TYR | Isolated sulfite oxidase deficiency (ISOD) | Swiss-Prot | VAR_015730 | Disease | p.TRP450ARG | Isolated sulfite oxidase deficiency (ISOD) | OMIM | 606887.0002 | Disease | p.ALA208ASP | SULFITE OXIDASE DEFICIENCY, ISOLATED | OMIM | 606887.0001 | Disease | p.ARG160GLN | SULFITE OXIDASE DEFICIENCY, ISOLATED | OMIM | 606887.0004 | Disease | p.GLY473ASP | SULFITE OXIDASE DEFICIENCY, ISOLATED | OMIM | 606887.0003 | Disease | p.SER370TYR | SULFITE OXIDASE DEFICIENCY, ISOLATED |
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 |
|