|
|
|---|
 |
|
Known Diseases associated with this Protein: |  BARTH SYNDROME
| BARTH SYNDROME (BTHS)
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_014110 | Disease | p.ARG94SER | Barth syndrome (BTHS) | | Swiss-Prot | VAR_014111 | Disease | p.CYS118ARG | Barth syndrome (BTHS) | | Swiss-Prot | VAR_014112 | Disease | p.GLY197ARG | Barth syndrome (BTHS) | | Swiss-Prot | VAR_068434 | Disease | p.GLY240ARG | Barth syndrome (BTHS) | | OMIM | 300394.0011 | Disease | p.ARG94SER | BARTH SYNDROME | | OMIM | 300394.0009 | Disease | p.CYS118ARG | BARTH SYNDROME | | OMIM | 300394.0006 | Disease | p.GLY197ARG | BARTH SYNDROME | | OMIM | 300394.0014 | Disease | p.GLY240ARG | BARTH SYNDROME | | OMIM | 300394.0002 | Disease | p.TYR51TER | BARTH SYNDROME |
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 |
|
2498992
TAZ_HUMAN RecName: Full=Tafazzin; AltName: Full=Protein G4.5
9
0
5
0
4
