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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_026633 | Disease | p.ALA96THR | Neurodegeneration with brain iron accumulation 3 (NBIA3) | dbSNP | rs11553262 | Polymorphism | p.SER49ILE | N/A | OMIM | 134790.0013 | Disease | p.ALA96THR | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 | OMIM | 134790.0019 | Disease | p.GLU104TER | L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE | OMIM | 134790.0018 | Disease | p.MET1VAL | L-FERRITIN DEFICIENCY, AUTOSOMAL DOMINANT | OMIM | 134790.0017 | Disease | p.THR30ILE | HYPERFERRITINEMIA WITH OR WITHOUT CATARACT |
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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