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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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dbSNP | rs111387770 | Polymorphism | p.ALA466THR | N/A | Swiss-Prot | VAR_016878 | Disease | p.ALA524VAL | Leigh syndrome (LS) | dbSNP | rs138277996 | Polymorphism | p.ARG465GLN | N/A | Swiss-Prot | VAR_002449 | Disease | p.ARG554TRP | Leigh syndrome (LS) | Swiss-Prot | VAR_065975 | Disease | p.ARG589TRP | Paragangliomas 5 (PGL5) | dbSNP | rs34635677 | Polymorphism | p.ASP38VAL | N/A | Swiss-Prot | VAR_049216 | Polymorphism | p.GLU240GLN | N/A | Swiss-Prot | VAR_016879 | Disease | p.GLY555GLU | Mitochondrial complex II deficiency (MT-C2D) | dbSNP | rs1061518 | Polymorphism | p.PHE33VAL | N/A | dbSNP | rs76896145 | Polymorphism | p.SER456LEU | N/A | dbSNP | rs6960 | Polymorphism | p.TYR629PHE | N/A | dbSNP | rs1062468 | Polymorphism | p.VAL333ILE | N/A | dbSNP | rs6962 | Polymorphism | p.VAL657ILE | N/A | OMIM | 600857.0002 | Disease | p.ALA524VAL | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY | OMIM | 600857.0001 | Disease | p.ARG554TRP | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY | OMIM | 600857.0005 | Disease | p.ARG589TRP | PARAGANGLIOMAS 5 | OMIM | 600857.0004 | Disease | p.GLY555GLU | MITOCHONDRIAL COMPLEX II DEFICIENCY||LEIGH SYNDROME, INCLUDED;;||CARDIOMYOPATHY, DILATED, 1GG, INCLUDED | OMIM | 600857.0003 | Disease | p.MET1LEU | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY | OMIM | 600857.0007 | Disease | p.SER509LEU | MITOCHONDRIAL COMPLEX II DEFICIENCY | OMIM | 600857.0006 | Disease | p.THR508ILE | MITOCHONDRIAL COMPLEX II DEFICIENCY |
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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