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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (1 FAMILY)
| CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (CMTX6)
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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_070082 | Disease | p.ARG158HIS | Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) | | Swiss-Prot | VAR_042297 | Polymorphism | p.GLU219ALA | N/A | | Swiss-Prot | VAR_070081 | Polymorphism | p.LYS114THR | N/A | | Swiss-Prot | VAR_070083 | Polymorphism | p.TYR334SER | N/A | | OMIM | 300906.0001 | Disease | p.ARG158HIS | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 (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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3183119
PDK3_HUMAN RecName: Full=[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; AltName: Full=Pyruvate dehydrogenase kinase isoform 3; Flags: Precursor
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