|
|
|---|
 |
|
Known Diseases associated with this Protein: |  COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
| COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (D2L2AD)
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_069495 | Disease | p.ARG282CYS | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069496 | Disease | p.ARG282GLY | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069491 | Disease | p.GLU144GLN | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069492 | Disease | p.GLY167ARG | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069494 | Disease | p.MET202THR | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069490 | Disease | p.PRO45LEU | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069493 | Disease | p.SER193TRP | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | Swiss-Prot | VAR_069497 | Disease | p.TYR297CYS | Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) | | OMIM | 190315.0002 | Disease | p.ARG275CYS | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA | | OMIM | 190315.0001 | Disease | p.ARG275GLY | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA | | OMIM | 190315.0003 | Disease | p.ARG275HIS | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA | | OMIM | 190315.0004 | Disease | p.GLY123ASP | COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA |
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 |
|
20141931
TXTP_HUMAN RecName: Full=Tricarboxylate transport protein, mitochondrial; AltName: Full=Citrate transport protein; Short=CTP; AltName: Full=Solute carrier family 25 member 1; AltName: Full=Tricarboxylate carrier protein; Flags: Precursor
12
0
4
0
8
