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Known Diseases associated with this Protein: |  MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (1 FAMILY)
| MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (MMDS3)
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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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| dbSNP | rs61745603 | Polymorphism | p.ALA182SER | N/A | | Swiss-Prot | VAR_069821 | Disease | p.GLN314PRO | Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) | | dbSNP | rs2298014 | Polymorphism | p.GLY211SER | N/A | | OMIM | 615316.0001 | Disease | p.GLN314PRO | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (1 family) |
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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74744873
CAF17_HUMAN RecName: Full=Putative transferase CAF17, mitochondrial; AltName: Full=Iron-sulfur cluster assembly factor homolog; Flags: Precursor
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