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Known Diseases associated with this Protein: |  HYPEROXALURIA PRIMARY 3 (HP3)
| HYPEROXALURIA, PRIMARY, TYPE III
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_064035 | Disease | p.CYS257GLY | Hyperoxaluria primary 3 (HP3) | | Swiss-Prot | VAR_064036 | Disease | p.GLY287VAL | Hyperoxaluria primary 3 (HP3) | | OMIM | 613597.0003 | Disease | p.ARG97CYS | HYPEROXALURIA, PRIMARY, TYPE III | | OMIM | 613597.0005 | Disease | p.ARG70PRO | HYPEROXALURIA, PRIMARY, TYPE III | | OMIM | 613597.0006 | Disease | p.CYS257GLY | HYPEROXALURIA, PRIMARY, TYPE III | | OMIM | 613597.0002 | Disease | p.GLY287VAL | HYPEROXALURIA, PRIMARY, TYPE III |
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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74750531
HOGA1_HUMAN RecName: Full=4-hydroxy-2-oxoglutarate aldolase, mitochondrial; AltName: Full=Dihydrodipicolinate synthase-like; Short=DHDPS-like protein; AltName: Full=Probable 2-keto-4-hydroxyglutarate aldolase; Short=Probable KHG-aldolase; AltName: Full=Protein 569272; Flags: Precursor
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