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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_063036 | Disease | p.ALA2234ASP | Thyroid dyshormonogenesis 3 (TDH3) | Swiss-Prot | VAR_016859 | Polymorphism | p.ALA1936THR | N/A | dbSNP | rs73354644 | Polymorphism | p.ALA2422THR | N/A | Swiss-Prot | VAR_063037 | Disease | p.ARG2336GLN | Thyroid dyshormonogenesis 3 (TDH3) | dbSNP | rs1133076 | Polymorphism | p.ARG2530GLN | N/A | Swiss-Prot | VAR_016863 | Polymorphism | p.ARG2242HIS | N/A | Swiss-Prot | VAR_049083 | Polymorphism | p.ARG2455HIS | N/A | dbSNP | rs16893332 | Polymorphism | p.ARG988HIS | N/A | Swiss-Prot | VAR_049079 | Polymorphism | p.ARG988PRO | N/A | Swiss-Prot | VAR_032013 | Polymorphism | p.ARG1979TRP | N/A | Swiss-Prot | VAR_010220 | Polymorphism | p.ARG1999TRP | N/A | dbSNP | rs10091530 | Polymorphism | p.ASN2616SER | N/A | dbSNP | rs61744749 | Polymorphism | p.ASP1729ALA | N/A | Swiss-Prot | VAR_010218 | Polymorphism | p.ASP1838ASN | N/A | Swiss-Prot | VAR_016860 | Polymorphism | p.ASP2091GLU | N/A | dbSNP | rs75865560 | Polymorphism | p.ASP1312GLY | N/A | dbSNP | rs61743198 | Polymorphism | p.ASP2091GLY | N/A | Swiss-Prot | VAR_010216 | Disease | p.CYS1264ARG | Thyroid dyshormonogenesis 3 (TDH3) | Swiss-Prot | VAR_010219 | Disease | p.CYS1996SER | Thyroid dyshormonogenesis 3 (TDH3) | Swiss-Prot | VAR_063034 | Disease | p.CYS183TYR | Thyroid dyshormonogenesis 3 (TDH3) | Swiss-Prot | VAR_063035 | Disease | p.CYS1897TYR | Thyroid dyshormonogenesis 3 (TDH3) | Swiss-Prot | VAR_016862 | Polymorphism | p.GLN2170ARG | N/A | dbSNP | rs180222 | Polymorphism | p.GLN515GLU | N/A | Swiss-Prot | VAR_010214 | Polymorphism | p.GLN830GLU | N/A | Swiss-Prot | VAR_010212 | Polymorphism | p.GLN135HIS | N/A | dbSNP | rs61740824 | Polymorphism | p.GLN2148HIS | N/A | dbSNP | rs2229843 | Polymorphism | p.GLN870HIS | N/A | Swiss-Prot | VAR_063038 | Disease | p.GLY2375ARG | Thyroid dyshormonogenesis 3 (TDH3) | dbSNP | rs16904774 | Polymorphism | p.GLY815ARG | N/A | Swiss-Prot | VAR_016853 | Polymorphism | p.GLY653ASP | N/A | Swiss-Prot | VAR_016855 | Polymorphism | p.HIS1043TYR | N/A | dbSNP | rs73710715 | Polymorphism | p.ILE1790MET | N/A | Swiss-Prot | VAR_016856 | Polymorphism | p.ILE1059THR | N/A | dbSNP | rs61744679 | Polymorphism | p.ILE1708VAL | N/A | Swiss-Prot | VAR_049080 | Polymorphism | p.LEU1063MET | N/A | Swiss-Prot | VAR_049084 | Polymorphism | p.LEU2469PRO | N/A | Swiss-Prot | VAR_061173 | Polymorphism | p.MET1974THR | N/A | dbSNP | rs853326 | Polymorphism | p.MET1028VAL | N/A | dbSNP | rs12114109 | Polymorphism | p.PHE2526LEU | N/A | Swiss-Prot | VAR_016858 | Polymorphism | p.PRO1463HIS | N/A | Swiss-Prot | VAR_016861 | Polymorphism | p.PRO2149LEU | N/A | Swiss-Prot | VAR_049077 | Polymorphism | p.PRO777LEU | N/A | dbSNP | rs61744678 | Polymorphism | p.PRO1707SER | N/A | dbSNP | rs180223 | Polymorphism | p.SER734ALA | N/A | Swiss-Prot | VAR_016852 | Polymorphism | p.SER604ASP | N/A | Swiss-Prot | VAR_049081 | Polymorphism | p.SER1222LEU | N/A | dbSNP | rs61741457 | Polymorphism | p.SER2132LEU | N/A | Swiss-Prot | VAR_049082 | Polymorphism | p.THR1740LYS | N/A | dbSNP | rs74590117 | Polymorphism | p.THR1498MET | N/A | Swiss-Prot | VAR_016857 | Polymorphism | p.TRP1437ARG | N/A | dbSNP | rs56541861 | Polymorphism | p.TRP2501ARG | N/A | dbSNP | rs61730222 | Polymorphism | p.VAL2472LEU | N/A | OMIM | 188450.0017 | Disease | p.ARG2336GLN | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0012 | Disease | p.ARG2223HIS | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0003 | Disease | p.ARG1511TER | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0007 | Disease | p.ARG277TER | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0008 | Disease | p.ARG1980TRP | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | OMIM | 188450.0014 | Disease | p.CYS1058ARG | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0005 | Disease | p.CYS1245ARG | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0006 | Disease | p.CYS1977SER | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0016 | Disease | p.CYS1897TYR | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0002 | Disease | p.GLN870HIS | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 188450.0015 | Disease | p.GLY2356ARG | THYROID DYSHORMONOGENESIS 3 | OMIM | 188450.0010 | Disease | p.MET1027VAL | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | OMIM | 188450.0009 | Disease | p.SER734ALA | AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 |
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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