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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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dbSNP | rs63750612 | Polymorphism | p.ALA495THR | N/A | dbSNP | rs62063786 | Polymorphism | p.ASP285ASN | N/A | dbSNP | rs63750072 | Polymorphism | p.GLN230ARG | N/A | dbSNP | rs63750417 | Polymorphism | p.PRO202LEU | N/A | dbSNP | rs10445337 | Polymorphism | p.SER447PRO | N/A | dbSNP | rs2258689 | Polymorphism | p.TYR441HIS | N/A | dbSNP | rs62063787 | Polymorphism | p.VAL289ALA | N/A | OMIM | 157140.0017 | Disease | p.ARG5HIS | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0019 | Disease | p.ARG5LEU | SUPRANUCLEAR PALSY, PROGRESSIVE, 1 | OMIM | 157140.0003 | Disease | p.ARG406TRP | DEMENTIA, FRONTOTEMPORAL | OMIM | 157140.0013 | Disease | p.ASN296ASN | DEMENTIA, FRONTOTEMPORAL | OMIM | 157140.0009 | Disease | p.ASN279LYS | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0014 | Disease | p.GLU342VAL | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0011 | Disease | p.GLY389ARG | PICK DISEASE | OMIM | 157140.0002 | Disease | p.GLY272VAL | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0025 | Disease | p.GLY303VAL | SUPRANUCLEAR PALSY, PROGRESSIVE, 1 | OMIM | 157140.0022 | Disease | p.LEU266VAL | DEMENTIA, FRONTOTEMPORAL | OMIM | 157140.0016 | Disease | p.LYS369ILE | PICK DISEASE | OMIM | 157140.0024 | Disease | p.LYS317MET | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0015 | Disease | p.LYS257THR | PICK DISEASE | OMIM | 157140.0001 | Disease | p.PRO301LEU | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE, 1, INCLUDED | OMIM | 157140.0012 | Disease | p.PRO301SER | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0010 | Disease | p.SER305ASN | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM | OMIM | 157140.0023 | Disease | p.SER352LEU | SUPRANUCLEAR PALSY, PROGRESSIVE, 1 | OMIM | 157140.0018 | Disease | p.SER320PHE | PICK DISEASE | OMIM | 157140.0008 | Disease | p.VAL337MET | DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM |
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.
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