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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 | rs3750904 | Polymorphism | p.ASP1908GLY | N/A | dbSNP | rs13402180 | Polymorphism | p.GLU422ASP | N/A | dbSNP | rs12478318 | Polymorphism | p.MET932LEU | N/A | dbSNP | rs58022607 | Polymorphism | p.SER490ASN | N/A | dbSNP | rs6746030 | Polymorphism | p.TRP1150ARG | N/A | dbSNP | rs4369876 | Polymorphism | p.VAL991LEU | N/A | OMIM | 603415.0008 | Disease | p.ARG996CYS | PAROXYSMAL EXTREME PAIN DISORDER | OMIM | 603415.0014 | Disease | p.ARG277TER | INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | OMIM | 603415.0018 | Disease | p.ASN641TYR | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 | OMIM | 603415.0024 | Disease | p.ASP623ASN | NEUROPATHY, SMALL FIBER | OMIM | 603415.0022 | Disease | p.GLN10ARG | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0023 | Disease | p.ILE720LYS | NEUROPATHY, SMALL FIBER | OMIM | 603415.0012 | Disease | p.ILE1461THR | PAROXYSMAL EXTREME PAIN DISORDER | OMIM | 603415.0002 | Disease | p.ILE848THR | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0020 | Disease | p.ILE62VAL | FEBRILE SEIZURES, FAMILIAL, 3B | OMIM | 603415.0001 | Disease | p.LEU858HIS | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0016 | Disease | p.LEU858PHE | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0019 | Disease | p.LYS655ARG | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7 | OMIM | 603415.0025 | Disease | p.MET932LEU | NEUROPATHY, SMALL FIBER | OMIM | 603415.0017 | Disease | p.PHE216SER | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0004 | Disease | p.PHE1449VAL | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0021 | Disease | p.PRO149GLN | FEBRILE SEIZURES, FAMILIAL, 3B | OMIM | 603415.0005 | Disease | p.SER459TER | INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | OMIM | 603415.0003 | Disease | p.SER241THR | ERYTHERMALGIA, PRIMARY | OMIM | 603415.0013 | Disease | p.THR1464ILE | PAROXYSMAL EXTREME PAIN DISORDER | OMIM | 603415.0007 | Disease | p.TRP897TER | INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | OMIM | 603415.0015 | Disease | p.TYR328TER | INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | OMIM | 603415.0009 | Disease | p.VAL1298ASP | PAROXYSMAL EXTREME PAIN DISORDER | OMIM | 603415.0025 | Disease | p.VAL991LEU | NEUROPATHY, SMALL FIBER | OMIM | 603415.0010 | Disease | p.VAL1298PHE | PAROXYSMAL EXTREME PAIN DISORDER | OMIM | 603415.0011 | Disease | p.VAL1299PHE | PAROXYSMAL EXTREME PAIN DISORDER |
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
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