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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT, INTERMEDIATE TYPE, F (CMTDIF)
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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_069908 | Disease | p.GLY53ASP | Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) | | Swiss-Prot | VAR_069909 | Disease | p.LYS89GLU | Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) | | OMIM | 610863.0001 | Disease | p.GLY53ASP | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F | | OMIM | 610863.0002 | Disease | p.LYS89GLU | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F |
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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22256759
GBB4_HUMAN RecName: Full=Guanine nucleotide-binding protein subunit beta-4; AltName: Full=Transducin beta chain 4
4
0
2
0
2
