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Known Diseases associated with this Protein: |  CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY (NICCD)
| CITRULLINEMIA, TYPE II, ADULT-ONSET
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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_050126 | Polymorphism | p.GLU141LYS | N/A | | Swiss-Prot | VAR_016601 | Disease | p.GLU601LYS | Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) | | Swiss-Prot | VAR_050127 | Polymorphism | p.LEU232ILE | N/A | | OMIM | 603859.0007 | Disease | p.ARG587GLN | CITRULLINEMIA, TYPE II, ADULT-ONSET | | OMIM | 603859.0004 | Disease | p.SER225TER | CITRULLINEMIA, TYPE II, ADULT-ONSET |
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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13124095
CMC2_HUMAN RecName: Full=Calcium-binding mitochondrial carrier protein Aralar2; AltName: Full=Citrin; AltName: Full=Mitochondrial aspartate glutamate carrier 2; AltName: Full=Solute carrier family 25 member 13
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