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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_046216 | Disease | p.ARG284CYS | Mitochondrial DNA depletion syndrome 5 (MTDPS5) | | Swiss-Prot | VAR_070123 | Disease | p.ASP251ASN | Mitochondrial DNA depletion syndrome 5 (MTDPS5) | | dbSNP | rs117412559 | Polymorphism | p.ASP367ASN | N/A | | Swiss-Prot | VAR_046215 | Disease | p.GLY118ARG | Mitochondrial DNA depletion syndrome 5 (MTDPS5) | | dbSNP | rs7320366 | Polymorphism | p.SER199THR | N/A | | Swiss-Prot | VAR_046214 | Polymorphism | p.VAL13MET | N/A | | OMIM | 603921.0004 | Disease | p.ARG284CYS | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITH||METHYLMALONIC ACIDURIA) | | OMIM | 603921.0005 | Disease | p.ASP251ASN | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITHOUT||METHYLMALONIC ACIDURIA) | | OMIM | 603921.0003 | Disease | p.GLY118ARG | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITH||METHYLMALONIC ACIDURIA) |
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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94730427
SUCB1_HUMAN RecName: Full=Succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial; AltName: Full=ATP-specific succinyl-CoA synthetase subunit beta; AltName: Full=Renal carcinoma antigen NY-REN-39; AltName: Full=Succinyl-CoA synthetase beta-A chain; Short=SCS-betaA; Flags: Precursor
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