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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT, INTERMEDIATE TYPE, C (CMTDIC)
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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_026683 | Polymorphism | p.GLN170HIS | N/A | | Swiss-Prot | VAR_026684 | Disease | p.GLU196LYS | Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) | | Swiss-Prot | VAR_026681 | Disease | p.GLY41ARG | Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) | | OMIM | 603623.0002 | Disease | p.GLU196LYS | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C | | OMIM | 603623.0001 | Disease | p.GLY41ARG | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C |
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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13638438
SYYC_HUMAN RecName: Full=Tyrosine--tRNA ligase, cytoplasmic; AltName: Full=Tyrosyl-tRNA synthetase; Short=TyrRS; Contains: RecName: Full=Tyrosine--tRNA ligase, cytoplasmic, N-terminally processed
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