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Known Diseases associated with this Protein: | 2-@METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY
| SHORT/BRANCHED-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SBCADD)
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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 | rs12263012 | Polymorphism | p.ARG13LYS | N/A | Swiss-Prot | VAR_048179 | Polymorphism | p.GLU376GLY | N/A | dbSNP | rs1140591 | Polymorphism | p.HIS213GLN | N/A | dbSNP | rs1131430 | Polymorphism | p.ILE316VAL | N/A | Swiss-Prot | VAR_013010 | Disease | p.LEU255PHE | Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) | Swiss-Prot | VAR_014749 | Polymorphism | p.SER209GLY | N/A | OMIM | 600301.0005 | Disease | p.GLU387LYS | 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | OMIM | 600301.0002 | Disease | p.LEU222PHE | 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | OMIM | 600301.0004 | Disease | p.THR148ILE | 2-@METHYLBUTYRYL-CoA DEHYDROGENASE 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
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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