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Known Diseases associated with this Protein: |  MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MTDPS2)
| MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
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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_023792 | Disease | p.ARG192LYS | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | Swiss-Prot | VAR_023791 | Disease | p.ARG183TRP | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | Swiss-Prot | VAR_019421 | Disease | p.HIS121ASN | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | Swiss-Prot | VAR_019422 | Disease | p.ILE212ASN | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | Swiss-Prot | VAR_019419 | Disease | p.ILE53MET | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | Swiss-Prot | VAR_019420 | Disease | p.THR108MET | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | Swiss-Prot | VAR_023790 | Disease | p.THR64MET | Mitochondrial DNA depletion syndrome 2 (MTDPS2) | | OMIM | 188250.0006 | Disease | p.ARG90CYS | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | | OMIM | 188250.0001 | Disease | p.HIS121ASN | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | | OMIM | 188250.0002 | Disease | p.ILE212ASN | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | | OMIM | 188250.0004 | Disease | p.ILE53MET | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | | OMIM | 188250.0003 | Disease | p.THR108MET | MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) |
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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254763443
KITM_HUMAN RecName: Full=Thymidine kinase 2, mitochondrial; AltName: Full=Mt-TK; Flags: Precursor
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