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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 | rs1052030 | Polymorphism | p.LEU16SER | N/A | dbSNP | rs35641839 | Polymorphism | p.VAL679ILE | N/A | OMIM | 276903.0005 | Disease | p.ARG212CYS | USHER SYNDROME, TYPE IB | OMIM | 276903.0004 | Disease | p.ARG212HIS | USHER SYNDROME, TYPE IB | OMIM | 276903.0006 | Disease | p.ARG302HIS | USHER SYNDROME, TYPE IB | OMIM | 276903.0021 | Disease | p.ARG395HIS | DEAFNESS, AUTOSOMAL RECESSIVE 2 | OMIM | 276903.0007 | Disease | p.ARG244PRO | DEAFNESS, AUTOSOMAL RECESSIVE 2 | OMIM | 276903.0001 | Disease | p.ARG150TER | USHER SYNDROME, TYPE IB | OMIM | 276903.0016 | Disease | p.ARG666TER | USHER SYNDROME, TYPE IB | OMIM | 276903.0015 | Disease | p.ASN458ILE | DEAFNESS, AUTOSOMAL DOMINANT 11 | OMIM | 276903.0019 | Disease | p.ASP218ASN | DEAFNESS, AUTOSOMAL DOMINANT 11 | OMIM | 276903.0013 | Disease | p.CYS31TER | USHER SYNDROME, TYPE IB | OMIM | 276903.0012 | Disease | p.CYS628TER | USHER SYNDROME, TYPE IB | OMIM | 276903.0002 | Disease | p.GLN234TER | USHER SYNDROME, TYPE IB | OMIM | 276903.0020 | Disease | p.GLY671SER | DEAFNESS, AUTOSOMAL DOMINANT 11 | OMIM | 276903.0010 | Disease | p.MET599ILE | DEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB, INCLUDED |
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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