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Known Diseases associated with this Protein: | LEIGH SYNDROME (LS)
| LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV 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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_068653 | Disease | p.ALA248ASP | Leigh syndrome (LS) | Swiss-Prot | VAR_068648 | Polymorphism | p.ALA56GLY | N/A | Swiss-Prot | VAR_036340 | Polymorphism | p.ASN89LYS | N/A | dbSNP | rs72619327 | Polymorphism | p.ASP202HIS | N/A | Swiss-Prot | VAR_015258 | Disease | p.GLY124ARG | Leigh syndrome (LS) | Swiss-Prot | VAR_068654 | Disease | p.GLY257ARG | Leigh syndrome (LS) | Swiss-Prot | VAR_007450 | Disease | p.GLY124GLU | Leigh syndrome (LS) | Swiss-Prot | VAR_068651 | Disease | p.GLY205GLU | Leigh syndrome (LS) | Swiss-Prot | VAR_007452 | Disease | p.ILE246THR | Leigh syndrome (LS) | Swiss-Prot | VAR_068649 | Disease | p.LEU90PRO | Leigh syndrome (LS) | Swiss-Prot | VAR_068652 | Disease | p.MET235THR | Leigh syndrome (LS) | Swiss-Prot | VAR_068682 | Polymorphism | p.TRP227ARG | N/A | Swiss-Prot | VAR_015259 | Disease | p.TYR274ASP | Leigh syndrome (LS) | Swiss-Prot | VAR_068650 | Disease | p.VAL177GLY | Leigh syndrome (LS) | OMIM | 185620.0006 | Disease | p.GLN251TER | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | 185620.0012 | Disease | p.GLY124GLU | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | 185620.0015 | Disease | p.TRP227ARG | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | 185620.0010 | Disease | p.TYR274ASP | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV 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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