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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_068813 | Disease | p.GLY160SER | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) | Swiss-Prot | VAR_068814 | Disease | p.GLY192SER | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) | dbSNP | rs643788 | Polymorphism | p.ILE393VAL | N/A | Swiss-Prot | VAR_068812 | Disease | p.LEU120MET | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) | Swiss-Prot | VAR_068810 | Disease | p.MET108ILE | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) | Swiss-Prot | VAR_036422 | Polymorphism | p.MET9ILE | N/A | Swiss-Prot | VAR_017243 | Disease | p.TYR170CYS | Congenital disorder of glycosylation 1J (CDG1J) | Swiss-Prot | VAR_068815 | Disease | p.VAL264GLY | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) | Swiss-Prot | VAR_068811 | Disease | p.VAL117ILE | Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) | OMIM | 191350.0009 | Disease | p.ALA114GLY | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | OMIM | 191350.0007 | Disease | p.ILE69ASN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | OMIM | 191350.0010 | Disease | p.ILE29PHE | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | OMIM | 191350.0005 | Disease | p.LEU120MET | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 | OMIM | 191350.0011 | Disease | p.LEU168PRO | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | OMIM | 191350.0003 | Disease | p.MET108ILE | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 | OMIM | 191350.0001 | Disease | p.TYR170CYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | OMIM | 191350.0006 | Disease | p.VAL264GLY | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 | OMIM | 191350.0002 | Disease | p.VAL117ILE | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 |
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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