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Known Diseases associated with this Protein: |  5-@OXOPROLINASE DEFICIENCY
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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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| dbSNP | rs61743013 | Polymorphism | p.ALA879VAL | N/A | | dbSNP | rs7004867 | Polymorphism | p.ARG31GLN | N/A | | dbSNP | rs78071726 | Polymorphism | p.ARG501GLN | N/A | | dbSNP | rs3935209 | Polymorphism | p.SER284ARG | N/A | | dbSNP | rs55916375 | Polymorphism | p.VAL340ILE | N/A | | OMIM | 614243.0002 | Disease | p.SER323ARG | 5-@OXOPROLINASE DEFICIENCY | | OMIM | 614243.0003 | Disease | p.VAL1089ILE | 5-@OXOPROLINASE DEFICIENCY |
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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59802978
OPLA_HUMAN RecName: Full=5-oxoprolinase; AltName: Full=5-oxo-L-prolinase; Short=5-OPase; AltName: Full=Pyroglutamase
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