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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 129010.0004 | Disease | p.ARG309TRP | DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED | | OMIM | 129010.0002 | Disease | p.ARG359TRP | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D | | OMIM | 129010.0003 | Disease | p.ASP333TYR | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT | | OMIM | 129010.0005 | Disease | p.GLU362LYS | DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT | | OMIM | 129010.0001 | Disease | p.ILE218ASN | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE | | OMIM | 129010.0003 | Disease | p.SER332ARG | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT |
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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209969757
E3 SUMO-protein ligase EGR2 isoform b [Homo sapiens]
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