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Known Diseases associated with this Protein: |  PYRUVATE CARBOXYLASE DEFICIENCY
| PYRUVATE CARBOXYLASE DEFICIENCY (PC 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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| Swiss-Prot | VAR_008095 | Disease | p.ALA610THR | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_015200 | Disease | p.ARG451CYS | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_058957 | Disease | p.ARG156GLN | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_058961 | Disease | p.ARG631GLN | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_058960 | Disease | p.ARG583LEU | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_058958 | Disease | p.ARG270TRP | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_048416 | Polymorphism | p.HIS76LEU | N/A | | Swiss-Prot | VAR_008096 | Disease | p.MET743ILE | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_058959 | Disease | p.TYR304CYS | Pyruvate carboxylase deficiency (PC deficiency) | | Swiss-Prot | VAR_015199 | Disease | p.VAL145ALA | Pyruvate carboxylase deficiency (PC deficiency) | | OMIM | 608786.0001 | Disease | p.ALA610THR | PYRUVATE CARBOXYLASE DEFICIENCY | | OMIM | 608786.0004 | Disease | p.ARG451CYS | PYRUVATE CARBOXYLASE DEFICIENCY | | OMIM | 608786.0007 | Disease | p.ARG156GLN | PYRUVATE CARBOXYLASE DEFICIENCY | | OMIM | 608786.0008 | Disease | p.ARG583LEU | PYRUVATE CARBOXYLASE DEFICIENCY | | OMIM | 608786.0002 | Disease | p.MET743ILE | PYRUVATE CARBOXYLASE DEFICIENCY | | OMIM | 608786.0003 | Disease | p.VAL145ALA | PYRUVATE CARBOXYLASE 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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1709947
PYC_HUMAN RecName: Full=Pyruvate carboxylase, mitochondrial; AltName: Full=Pyruvic carboxylase; Short=PCB; Flags: Precursor
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