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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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Swiss-Prot | VAR_029958 | Disease | p.ARG381CYS | Charcot-Marie-Tooth disease 1D (CMT1D) | Swiss-Prot | VAR_009875 | Disease | p.ARG381HIS | Charcot-Marie-Tooth disease 1D (CMT1D) | Swiss-Prot | VAR_009874 | Disease | p.ARG359TRP | Dejerine-Sottas syndrome (DSS) | Swiss-Prot | VAR_007738 | Disease | p.ARG409TRP | Charcot-Marie-Tooth disease 1D (CMT1D) | Swiss-Prot | VAR_029959 | Disease | p.ASP383TYR | Charcot-Marie-Tooth disease 1D (CMT1D) | Swiss-Prot | VAR_007736 | Disease | p.ASP355VAL | Charcot-Marie-Tooth disease 1D (CMT1D) | Swiss-Prot | VAR_007735 | Disease | p.ILE268ASN | Neuropathy, congenital hypomyelinating or amyelinating (CHN) | OMIM | 129010.0004 | Disease | p.ARG359TRP | DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED | OMIM | 129010.0002 | Disease | p.ARG409TRP | CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D | OMIM | 129010.0003 | Disease | p.ASP383TYR | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT | OMIM | 129010.0005 | Disease | p.GLU412LYS | DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT | OMIM | 129010.0001 | Disease | p.ILE268ASN | NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE | OMIM | 129010.0003 | Disease | p.SER382ARG | 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
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