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Known Diseases associated with this Protein: |  SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY (SCOTD)
| SUCCINYL-COA:3-OXOACID COA TRANSFERASE DEFICIENCY
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_065564 | Disease | p.ALA215VAL | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_065569 | Disease | p.ARG468CYS | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_000697 | Disease | p.CYS456PHE | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_010337 | Disease | p.GLY219GLU | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_010339 | Disease | p.GLY324GLU | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_065566 | Disease | p.LEU327PRO | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_065565 | Disease | p.SER226ASN | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_065568 | Disease | p.SER405PRO | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_000695 | Polymorphism | p.THR58MET | N/A | | Swiss-Prot | VAR_000696 | Disease | p.VAL133GLU | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_010338 | Disease | p.VAL221MET | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | Swiss-Prot | VAR_065567 | Disease | p.VAL404PHE | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) | | OMIM | 601424.0002 | Disease | p.CYS456PHE | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | | OMIM | 601424.0005 | Disease | p.GLY219GLU | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | | OMIM | 601424.0004 | Disease | p.GLY324GLU | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | | OMIM | 601424.0001 | Disease | p.SER283TER | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY | | OMIM | 601424.0006 | Disease | p.VAL221MET | SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE 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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2492998
SCOT1_HUMAN RecName: Full=Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial; AltName: Full=3-oxoacid CoA-transferase 1; AltName: Full=Somatic-type succinyl-CoA:3-oxoacid CoA-transferase; Short=SCOT-s; Flags: Precursor
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