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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_065860 | Disease | p.ARG288CYS | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) | Swiss-Prot | VAR_065854 | Disease | p.ARG98CYS | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | Swiss-Prot | VAR_065852 | Disease | p.ARG92GLN | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | dbSNP | rs35446349 | Polymorphism | p.ARG3THR | N/A | Swiss-Prot | VAR_065853 | Disease | p.ARG92TRP | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) | dbSNP | rs116102273 | Polymorphism | p.ASN324SER | N/A | Swiss-Prot | VAR_065855 | Disease | p.ASP128ASN | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) | Swiss-Prot | VAR_065859 | Disease | p.ASP211ASN | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | dbSNP | rs77759828 | Polymorphism | p.GLN284ARG | N/A | Swiss-Prot | VAR_065850 | Disease | p.GLY89ASP | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) | Swiss-Prot | VAR_065851 | Disease | p.GLY89SER | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B) | Swiss-Prot | VAR_065849 | Disease | p.LEU23HIS | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | dbSNP | rs10790715 | Polymorphism | p.MET218VAL | N/A | Swiss-Prot | VAR_065857 | Disease | p.PRO148SER | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | Swiss-Prot | VAR_065858 | Disease | p.SER196TYR | Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A) | OMIM | 611642.0005 | Disease | p.ARG98CYS | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | OMIM | 611642.0003 | Disease | p.ARG92GLN | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | OMIM | 611642.0008 | Disease | p.ARG92TRP | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH OR WITHOUT MENTAL RETARDATION | OMIM | 611642.0004 | Disease | p.ASP211ASN | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | OMIM | 611642.0007 | Disease | p.GLY89ASP | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH MENTAL RETARDATION | OMIM | 611642.0006 | Disease | p.GLY89SER | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH OR WITHOUT MENTAL RETARDATION | OMIM | 611642.0001 | Disease | p.SER196TYR | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | OMIM | 611642.0002 | Disease | p.TRP263TER | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A |
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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