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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_009408 | Disease | p.ALA726GLU | Tuberous sclerosis 1 (TSC1) | Swiss-Prot | VAR_054391 | Disease | p.ARG500GLN | Tuberous sclerosis 1 (TSC1) | Swiss-Prot | VAR_009398 | Polymorphism | p.ARG190SER | N/A | Swiss-Prot | VAR_009407 | Disease | p.GLN654GLU | Tuberous sclerosis 1 (TSC1) | Swiss-Prot | VAR_009397 | Polymorphism | p.GLU51ASP | N/A | Swiss-Prot | VAR_009404 | Polymorphism | p.GLU577ASP | N/A | Swiss-Prot | VAR_009410 | Polymorphism | p.GLU809GLN | N/A | Swiss-Prot | VAR_009413 | Polymorphism | p.GLY1035SER | N/A | Swiss-Prot | VAR_009414 | Polymorphism | p.GLY1108SER | N/A | Swiss-Prot | VAR_054386 | Polymorphism | p.HIS68ARG | N/A | Swiss-Prot | VAR_054389 | Polymorphism | p.HIS206ASP | N/A | Swiss-Prot | VAR_009409 | Polymorphism | p.HIS732TYR | N/A | Swiss-Prot | VAR_009399 | Polymorphism | p.LEU191HIS | N/A | Swiss-Prot | VAR_054387 | Disease | p.LEU72PRO | Tuberous sclerosis 1 (TSC1) | Swiss-Prot | VAR_009406 | Polymorphism | p.LYS587ARG | N/A | Swiss-Prot | VAR_009401 | Polymorphism | p.MET224ARG | N/A | dbSNP | rs1073123 | Polymorphism | p.MET322THR | N/A | Swiss-Prot | VAR_054388 | Polymorphism | p.PHE158CYS | N/A | Swiss-Prot | VAR_054390 | Polymorphism | p.PHE216LEU | N/A | Swiss-Prot | VAR_009411 | Polymorphism | p.SER829ARG | N/A | Swiss-Prot | VAR_009403 | Polymorphism | p.THR417ILE | N/A | Swiss-Prot | VAR_009412 | Disease | p.THR899SER | Tuberous sclerosis 1 (TSC1) | OMIM | 605284.0006 | Disease | p.CYS165TER | LYMPHANGIOLEIOMYOMATOSIS | OMIM | 605284.0007 | Disease | p.HIS732TYR | FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIB||TUBEROUS SCLEROSIS 1, INCLUDED | OMIM | 605284.0009 | Disease | p.LEU180PRO | TUBEROUS SCLEROSIS 1 | OMIM | 605284.0002 | Disease | p.LEU250TER | TUBEROUS SCLEROSIS 1 | OMIM | 605284.0003 | Disease | p.LYS585ARG | TUBEROUS SCLEROSIS 1 | OMIM | 605284.0008 | Disease | p.MET224ARG | TUBEROUS SCLEROSIS 1 |
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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