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Known Diseases associated with this Protein: |  D-GLYCERIC ACIDURIA
| D-GLYCERIC ACIDURIA (D-GA)
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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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| MOFRL | pfam05161 | 2.8e-71 | 401 | 514 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_061205 | Polymorphism | p.ARG27CYS | N/A | | dbSNP | rs78388149 | Polymorphism | p.HIS490TYR | N/A | | Swiss-Prot | VAR_032285 | Polymorphism | p.LEU170VAL | N/A | | Swiss-Prot | VAR_065909 | Disease | p.PHE493CYS | D-glyceric aciduria (D-GA) | | dbSNP | rs9813489 | Polymorphism | p.THR394ILE | N/A | | OMIM | 610516.0002 | Disease | p.PHE493CYS | D-GLYCERIC 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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74728080
GLCTK_HUMAN RecName: Full=Glycerate kinase; AltName: Full=HBeAg-binding protein 4
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