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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 | rs2229420 | Polymorphism | p.GLN358LYS | N/A | Swiss-Prot | VAR_002273 | Disease | p.GLU510GLN | Maternal acute fatty liver of pregnancy (AFLP) | Swiss-Prot | VAR_021126 | Disease | p.ILE305ASN | Trifunctional protein deficiency (TFP deficiency) | Swiss-Prot | VAR_021127 | Disease | p.LEU342PRO | Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) | Swiss-Prot | VAR_021125 | Disease | p.VAL282ASP | Trifunctional protein deficiency (TFP deficiency) | OMIM | 600890.0010 | Disease | p.ARG255TER | TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY | OMIM | 600890.0005 | Disease | p.ARG524TER | TRIFUNCTIONAL PROTEIN DEFICIENCY | OMIM | 600890.0002 | Disease | p.GLN342TER | LCHAD DEFICIENCY | OMIM | 600890.0001 | Disease | p.GLU510GLN | LCHAD DEFICIENCY||LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY, INCLUDED | OMIM | 600890.0009 | Disease | p.ILE269ASN | TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY | OMIM | 600890.0007 | Disease | p.LEU342PRO | LCHAD DEFICIENCY | OMIM | 600890.0008 | Disease | p.VAL246ASP | TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY |
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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