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Known Diseases associated with this Protein: |  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR 2 (MC5DN2)
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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 | rs8075 | Polymorphism | p.ALA34PRO | N/A | | Swiss-Prot | VAR_034565 | Polymorphism | p.ASN228LYS | N/A | | dbSNP | rs1053077 | Polymorphism | p.ASP259GLU | N/A | | dbSNP | rs1053079 | Polymorphism | p.THR250ALA | N/A | | Swiss-Prot | VAR_068847 | Disease | p.THR210PRO | Mitochondrial complex V deficiency, nuclear 2 (MC5DN2) | | OMIM | 612418.0004 | Disease | p.ARG80TER | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 | | OMIM | 612418.0003 | Disease | p.TYR112TER | MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 |
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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74733203
TMM70_HUMAN RecName: Full=Transmembrane protein 70, mitochondrial; Flags: Precursor
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