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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063685 | Disease | p.ALA405THR | ataxia 6 (SCA6) | Swiss-Prot | VAR_063686 | Polymorphism | p.ALA454THR | N/A | Swiss-Prot | VAR_014456 | Polymorphism | p.ALA21VAL | N/A | Swiss-Prot | VAR_063692 | Disease | p.ARG1679CYS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043842 | Disease | p.ARG2135CYS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043830 | Disease | p.ARG1346GLN | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_063691 | Disease | p.ARG1664GLN | Spinocerebellar ataxia 6 (SCA6) | Swiss-Prot | VAR_001491 | Disease | p.ARG192GLN | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043826 | Disease | p.ARG583GLN | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043837 | Disease | p.ARG1661HIS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043820 | Disease | p.ARG195LYS | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043838 | Disease | p.ARG1667TRP | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043827 | Disease | p.ASP715GLU | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_063693 | Disease | p.CYS1869ARG | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043823 | Disease | p.CYS256ARG | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043824 | Disease | p.CYS287TYR | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_059221 | Polymorphism | p.GLU732ALA | N/A | Swiss-Prot | VAR_014459 | Polymorphism | p.GLU918ASP | N/A | Swiss-Prot | VAR_014461 | Polymorphism | p.GLU1015LYS | N/A | Swiss-Prot | VAR_043841 | Disease | p.GLU1756LYS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_067342 | Disease | p.GLU388LYS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043828 | Polymorphism | p.GLU993VAL | N/A | Swiss-Prot | VAR_043834 | Disease | p.GLY1482ARG | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043825 | Disease | p.GLY293ARG | Spinocerebellar ataxia 6 (SCA6) | Swiss-Prot | VAR_063688 | Disease | p.GLY638ASP | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_014462 | Polymorphism | p.GLY1105SER | N/A | Swiss-Prot | VAR_043840 | Disease | p.HIS1736LEU | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043822 | Disease | p.HIS253TYR | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_001494 | Disease | p.ILE1810LEU | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_063684 | Disease | p.LEU389PHE | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043829 | Disease | p.LYS1335GLU | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_063689 | Disease | p.MET798THR | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043832 | Disease | p.PHE1403CYS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_043835 | Disease | p.PHE1490SER | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_063690 | Disease | p.PRO897ARG | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_059222 | Polymorphism | p.PRO1173LEU | N/A | Swiss-Prot | VAR_014463 | Polymorphism | p.PRO2394SER | N/A | Swiss-Prot | VAR_014458 | Polymorphism | p.PRO914SER | N/A | Swiss-Prot | VAR_043821 | Disease | p.SER218LEU | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_063687 | Disease | p.THR501MET | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_001492 | Disease | p.THR666MET | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043839 | Disease | p.TRP1683ARG | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043831 | Disease | p.TYR1384CYS | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_063683 | Disease | p.TYR248CYS | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_001493 | Disease | p.VAL714ALA | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043836 | Disease | p.VAL1493ILE | Episodic ataxia 2 (EA2) | Swiss-Prot | VAR_063706 | Disease | p.VAL1695ILE | Migraine, familial hemiplegic, 1 (FHM1) | Swiss-Prot | VAR_043833 | Disease | p.VAL1456LEU | Migraine, familial hemiplegic, 1 (FHM1) |
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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