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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_030192 | Polymorphism | p.ALA343PRO | N/A | | Swiss-Prot | VAR_064571 | Disease | p.ASN430SER | Mitochondrial complex I deficiency (MT-C1D) | | Swiss-Prot | VAR_051003 | Polymorphism | p.HIS380ARG | N/A | | dbSNP | rs34542988 | Polymorphism | p.VAL145ILE | N/A | | OMIM | 613622.0003 | Disease | p.ARG352TRP | MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 613622.0002 | Disease | p.ASN430SER | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | | OMIM | 613622.0001 | Disease | p.GLN232TER | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I 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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124007188
FXRD1_HUMAN RecName: Full=FAD-dependent oxidoreductase domain-containing protein 1
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