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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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DYNc | smart00053 | 5.2e-09 | 302 | 552 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs7624750 | Polymorphism | p.SER158ASN | N/A | OMIM | 605290.0005 | Disease | p.ARG272GLN | OPTIC ATROPHY 1 | OMIM | 605290.0011 | Disease | p.ARG427HIS | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0006 | Disease | p.ARG348TER | OPTIC ATROPHY 1 | OMIM | 605290.0001 | Disease | p.GLY282GLU | OPTIC ATROPHY 1 | OMIM | 605290.0016 | Disease | p.GLY421VAL | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0018 | Disease | p.ILE364MET | OPTIC ATROPHY 1||OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY, INCLUDED | OMIM | 605290.0014 | Disease | p.ILE414VAL | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0015 | Disease | p.SER527ARG | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0013 | Disease | p.TYR564CYS | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0017 | Disease | p.VAL892ASP | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY |
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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