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Known Diseases associated with this Protein: | L-2-HYDROXYGLUTARIC ACIDURIA
| L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA)
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| | 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. |
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Default View:
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Domains found on the Protein Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_057808 | Polymorphism | p.ARG33SER | N/A | Swiss-Prot | VAR_025687 | Disease | p.GLU176ASP | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025683 | Disease | p.GLY57ARG | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025682 | Disease | p.GLY55ASP | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025685 | Disease | p.HIS98ARG | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025690 | Disease | p.HIS434PRO | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025686 | Disease | p.HIS98TYR | L-2-hydroxyglutaric aciduria (L2HGA) | dbSNP | rs2275591 | Polymorphism | p.LEU18ARG | N/A | Swiss-Prot | VAR_025684 | Disease | p.LYS81GLU | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025689 | Disease | p.PRO302LEU | L-2-hydroxyglutaric aciduria (L2HGA) | Swiss-Prot | VAR_025688 | Polymorphism | p.TYR178PHE | N/A | OMIM | 609584.0007 | Disease | p.ARG335TER | L-2-HYDROXYGLUTARIC ACIDURIA | OMIM | 609584.0004 | Disease | p.GLY55ASP | L-2-HYDROXYGLUTARIC ACIDURIA | OMIM | 609584.0006 | Disease | p.HIS98ARG | L-2-HYDROXYGLUTARIC ACIDURIA | OMIM | 609584.0001 | Disease | p.PRO302LEU | 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 |
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