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Known Diseases associated with this Protein: | ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY
| ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY (IBDD)
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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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Default View:
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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_035077 | Disease | p.ALA320THR | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035078 | Disease | p.ARG334CYS | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035076 | Disease | p.ARG302GLN | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035072 | Disease | p.ASP134TYR | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035079 | Disease | p.GLN385ARG | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035073 | Disease | p.GLY137ARG | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035071 | Disease | p.MET128ILE | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035074 | Disease | p.MET152THR | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Swiss-Prot | VAR_035075 | Disease | p.VAL203ILE | Isobutyryl-CoA dehydrogenase deficiency (IBDD) | OMIM | 604773.0005 | Disease | p.ARG302GLN | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | OMIM | 604773.0003 | Disease | p.ARG308TRP | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | OMIM | 604773.0002 | Disease | p.GLY355SER | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | OMIM | 604773.0004 | Disease | p.HIS267GLN | ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY | OMIM | 604773.0001 | Disease | p.MET103THR | ISOBUTYRYL-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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