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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 | 283 | 533 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs7624750 | Polymorphism | p.SER158ASN | N/A | | OMIM | 605290.0005 | Disease | p.ARG253GLN | OPTIC ATROPHY 1 | | OMIM | 605290.0011 | Disease | p.ARG408HIS | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | | OMIM | 605290.0006 | Disease | p.ARG329TER | OPTIC ATROPHY 1 | | OMIM | 605290.0001 | Disease | p.GLY263GLU | OPTIC ATROPHY 1 | | OMIM | 605290.0016 | Disease | p.GLY402VAL | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | | OMIM | 605290.0018 | Disease | p.ILE345MET | OPTIC ATROPHY 1||OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY, INCLUDED | | OMIM | 605290.0014 | Disease | p.ILE395VAL | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | | OMIM | 605290.0015 | Disease | p.SER508ARG | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | | OMIM | 605290.0013 | Disease | p.TYR545CYS | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | | OMIM | 605290.0017 | Disease | p.VAL873ASP | 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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224831248
dynamin-like 120 kDa protein, mitochondrial isoform 5 [Homo sapiens]
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