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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 | rs2135720 | Polymorphism | p.ARG929GLN | N/A | Swiss-Prot | VAR_024035 | Disease | p.ARG134GLY | Deafness, autosomal recessive, 23 (DFNB23) | dbSNP | rs4935502 | Polymorphism | p.ASP435ALA | N/A | Swiss-Prot | VAR_069297 | Disease | p.ASP178GLY | Usher syndrome 1D/F (USH1DF) | Swiss-Prot | VAR_024037 | Disease | p.GLN1342LYS | Usher syndrome 1F (USH1F) | Swiss-Prot | VAR_024036 | Disease | p.GLY262ASP | Deafness, autosomal recessive, 23 (DFNB23) | dbSNP | rs10825269 | Polymorphism | p.GLY380SER | N/A | dbSNP | rs79854148 | Polymorphism | p.ILE1903VAL | N/A | dbSNP | rs11004439 | Polymorphism | p.SER19ALA | N/A | OMIM | 605514.0007 | Disease | p.ARG129GLY | DEAFNESS, AUTOSOMAL RECESSIVE 23 | OMIM | 605514.0004 | Disease | p.ARG240TER | USHER SYNDROME, TYPE IF | OMIM | 605514.0002 | Disease | p.ARG3TER | USHER SYNDROME, TYPE IF | OMIM | 605514.0006 | Disease | p.GLY257ASP | DEAFNESS, AUTOSOMAL RECESSIVE 23 | OMIM | 605514.0009 | Disease | p.SER642TER | USHER SYNDROME, TYPE IF | OMIM | 605514.0010 | Disease | p.VAL523ASP | DEAFNESS, AUTOSOMAL RECESSIVE 23 |
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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