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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_015085 | Disease | p.ARG42PRO | Erythrokeratodermia variabilis (EKV) | dbSNP | rs1805063 | Polymorphism | p.ARG32TRP | N/A | Swiss-Prot | VAR_002149 | Disease | p.CYS86SER | Erythrokeratodermia variabilis (EKV) | Swiss-Prot | VAR_002150 | Disease | p.GLU183LYS | Deafness, autosomal dominant, 2B (DFNA2B) | Swiss-Prot | VAR_002148 | Disease | p.GLY12ARG | Erythrokeratodermia variabilis (EKV) | Swiss-Prot | VAR_002147 | Disease | p.GLY12ASP | Erythrokeratodermia variabilis (EKV) | Swiss-Prot | VAR_015087 | Disease | p.ILE141VAL | Deafness, autosomal dominant, 2B (DFNA2B) | Swiss-Prot | VAR_015086 | Disease | p.PHE137LEU | Erythrokeratodermia variabilis (EKV) | dbSNP | rs200004121 | Polymorphism | p.THR238PRO | N/A | dbSNP | rs61734064 | Polymorphism | p.VAL200ILE | N/A | OMIM | 603324.0012 | Disease | p.ALA194THR | DEAFNESS, DIGENIC, GJB2/GJB3 | OMIM | 603324.0008 | Disease | p.ARG42PRO | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA | OMIM | 603324.0005 | Disease | p.ARG180TER | DEAFNESS, AUTOSOMAL DOMINANT 2B | OMIM | 603324.0011 | Disease | p.ASN166SER | DEAFNESS, DIGENIC, GJB2/GJB3 | OMIM | 603324.0003 | Disease | p.CYS86SER | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA | OMIM | 603324.0004 | Disease | p.GLU183LYS | DEAFNESS, AUTOSOMAL DOMINANT 2B | OMIM | 603324.0001 | Disease | p.GLY12ARG | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA | OMIM | 603324.0002 | Disease | p.GLY12ASP | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA | OMIM | 603324.0007 | Disease | p.ILE141VAL | DEAFNESS, AUTOSOMAL RECESSIVE | OMIM | 603324.0010 | Disease | p.LEU34PRO | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA |
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.
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