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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2072279 | Polymorphism | p.ARG159GLN | N/A | Swiss-Prot | VAR_026563 | Disease | p.ASN204LYS | Mitochondrial complex IV deficiency (MT-C4D) | Swiss-Prot | VAR_026565 | Disease | p.ASP336GLY | Mitochondrial complex IV deficiency (MT-C4D) | Swiss-Prot | VAR_026566 | Disease | p.ASP336VAL | Mitochondrial complex IV deficiency (MT-C4D) | Swiss-Prot | VAR_060234 | Polymorphism | p.GLY340ASP | N/A | Swiss-Prot | VAR_064768 | Polymorphism | p.LEU258HIS | N/A | Swiss-Prot | VAR_026564 | Disease | p.PRO225LEU | Mitochondrial complex IV deficiency (MT-C4D) | dbSNP | rs16948978 | Polymorphism | p.THR28ILE | N/A | Swiss-Prot | VAR_026562 | Disease | p.THR196LYS | Mitochondrial complex IV deficiency (MT-C4D) | dbSNP | rs2230351 | Polymorphism | p.THR62SER | N/A | dbSNP | rs16948986 | Polymorphism | p.TYR97CYS | N/A | OMIM | 602125.0001 | Disease | p.ASN204LYS | MITOCHONDRIAL COMPLEX IV DEFICIENCY||ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY||DUE TO | OMIM | 602125.0005 | Disease | p.ASP336GLY | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | 602125.0004 | Disease | p.ASP336VAL | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | 602125.0003 | Disease | p.PRO225LEU | MITOCHONDRIAL COMPLEX IV DEFICIENCY | OMIM | 602125.0002 | Disease | p.THR196LYS | 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.
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