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Known Diseases associated with this Protein: |  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR 5 (MC3DN5)
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs4850 | Polymorphism | p.ARG183GLN | N/A | | dbSNP | rs11863893 | Polymorphism | p.ARG254HIS | N/A | | dbSNP | rs2228473 | Polymorphism | p.ARG148SER | N/A | | Swiss-Prot | VAR_069709 | Disease | p.ARG183TRP | Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) | | Swiss-Prot | VAR_036479 | Polymorphism | p.PHE208TYR | N/A | | OMIM | 191329.0001 | Disease | p.ARG183TRP | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 |
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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21903482
QCR2_HUMAN RecName: Full=Cytochrome b-c1 complex subunit 2, mitochondrial; AltName: Full=Complex III subunit 2; AltName: Full=Core protein II; AltName: Full=Ubiquinol-cytochrome-c reductase complex core protein 2; Flags: Precursor
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