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Known Diseases associated with this Protein: | LEUKOENCEPHALOPATHY, MEGALENCEPHALIC, WITH SUBCORTICAL CYSTS, 1 (MLC1)
| MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
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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 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_067766 | Disease | p.ALA245PRO | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_067764 | Disease | p.ARG84CYS | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_017440 | Disease | p.ASN141LYS | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_017441 | Disease | p.ASN141SER | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | dbSNP | rs11568188 | Polymorphism | p.ASN344SER | N/A | Swiss-Prot | VAR_067765 | Disease | p.CYS125ARG | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | dbSNP | rs6010260 | Polymorphism | p.CYS171PHE | N/A | Swiss-Prot | VAR_011701 | Disease | p.GLY212ARG | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_017438 | Disease | p.GLY59GLU | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_012731 | Polymorphism | p.LEU309MET | N/A | Swiss-Prot | VAR_067763 | Disease | p.MET80ILE | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_017439 | Disease | p.PRO92SER | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_067767 | Disease | p.SER246ARG | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_011702 | Disease | p.SER280LEU | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_067762 | Disease | p.SER69LEU | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_011699 | Disease | p.SER93LEU | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_011700 | Disease | p.THR118ARG | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | Swiss-Prot | VAR_067768 | Disease | p.THR320LYS | Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) | OMIM | 605908.0005 | Disease | p.ASN141LYS | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0006 | Disease | p.ASN141SER | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0009 | Disease | p.GLY59GLU | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0007 | Disease | p.PRO92SER | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0001 | Disease | p.SER280LEU | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0013 | Disease | p.SER69LEU | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0002 | Disease | p.SER93LEU | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | OMIM | 605908.0008 | Disease | p.TYR198TER | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 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.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
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