|  | 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_063435 | Disease | p.ARG194HIS | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD) | | dbSNP | rs36041021 | Polymorphism | p.PHE166LEU | N/A | | OMIM | 600924.0001 | Disease | p.ARG194HIS | MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING||LOSS, AND DEVELOPMENTAL DELAY |
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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218511915
ALR_HUMAN RecName: Full=FAD-linked sulfhydryl oxidase ALR; AltName: Full=Augmenter of liver regeneration; Short=hERV1; AltName: Full=Hepatopoietin
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