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Known Diseases associated with this Protein: | DEAFNESS, AUTOSOMAL DOMINANT 4
| PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs11669191 | Polymorphism | p.ALA1250GLU | N/A | dbSNP | rs75915336 | Polymorphism | p.GLY681ARG | N/A | dbSNP | rs34498817 | Polymorphism | p.PRO342ALA | N/A | OMIM | 608568.0006 | Disease | p.ARG941LEU | PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS | OMIM | 608568.0003 | Disease | p.ARG726SER | DEAFNESS, AUTOSOMAL DOMINANT 4 | OMIM | 608568.0004 | Disease | p.GLY376CYS | DEAFNESS, AUTOSOMAL DOMINANT 4 | OMIM | 608568.0002 | Disease | p.LEU976PHE | DEAFNESS, AUTOSOMAL DOMINANT 4 | OMIM | 608568.0005 | Disease | p.SER120LEU | DEAFNESS, AUTOSOMAL DOMINANT 4 | OMIM | 608568.0001 | Disease | p.SER7TER | DEAFNESS, AUTOSOMAL DOMINANT 4 |
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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