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Known Diseases associated with this Protein: | NEUROPATHY, HEREDITARY SENSORY, TYPE II
| VARIANT OF UNKNOWN SIGNIFICANCE
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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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs11554421 | Polymorphism | p.ALA141THR | N/A | Swiss-Prot | VAR_041310 | Polymorphism | p.ALA149VAL | N/A | Swiss-Prot | VAR_041316 | Polymorphism | p.ALA1546VAL | N/A | dbSNP | rs117016551 | Polymorphism | p.ARG1945CYS | N/A | Swiss-Prot | VAR_041319 | Polymorphism | p.ARG1957HIS | N/A | Swiss-Prot | VAR_041322 | Polymorphism | p.ARG2380TRP | N/A | Swiss-Prot | VAR_041313 | Polymorphism | p.ASP527GLY | N/A | Swiss-Prot | VAR_059034 | Polymorphism | p.CYS1506SER | N/A | Swiss-Prot | VAR_035641 | Polymorphism | p.GLN1799GLU | N/A | Swiss-Prot | VAR_041311 | Polymorphism | p.GLU419GLN | N/A | Swiss-Prot | VAR_035640 | Polymorphism | p.GLU1199GLY | N/A | Swiss-Prot | VAR_041315 | Polymorphism | p.HIS823ARG | N/A | dbSNP | rs34728563 | Polymorphism | p.ILE509THR | N/A | dbSNP | rs61736905 | Polymorphism | p.ILE694THR | N/A | dbSNP | rs12828016 | Polymorphism | p.MET1808ILE | N/A | Swiss-Prot | VAR_041321 | Polymorphism | p.PHE2362LEU | N/A | dbSNP | rs17755373 | Polymorphism | p.PRO1823LEU | N/A | Swiss-Prot | VAR_041320 | Polymorphism | p.SER2190CYS | N/A | dbSNP | rs11833299 | Polymorphism | p.THR674ALA | N/A | dbSNP | rs2286007 | Polymorphism | p.THR665ILE | N/A | dbSNP | rs956868 | Polymorphism | p.THR1056PRO | N/A | OMIM | 605232.0007 | Disease | p.ARG290TER | NEUROPATHY, HEREDITARY SENSORY, TYPE II | OMIM | 605232.0005 | Disease | p.GLN315TER | NEUROPATHY, HEREDITARY SENSORY, TYPE II | OMIM | 605232.0009 | Disease | p.GLN73TER | NEUROPATHY, HEREDITARY SENSORY, TYPE II | OMIM | 605232.0012 | Disease | p.ILE759MET | VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 605232.0013 | Disease | p.SER1787ASN | VARIANT OF UNKNOWN SIGNIFICANCE |
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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