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Known Diseases associated with this Protein: |  HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE
| HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE (HMSNP)
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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_035668 | Polymorphism | p.ALA149SER | N/A | | Swiss-Prot | VAR_054322 | Polymorphism | p.ALA211VAL | N/A | | Swiss-Prot | VAR_068917 | Disease | p.PRO285LEU | Hereditary motor and sensory neuropathy, proximal type (HMSNP) | | Swiss-Prot | VAR_054323 | Polymorphism | p.THR364PRO | N/A | | Swiss-Prot | VAR_059731 | Polymorphism | p.VAL43PHE | N/A | | OMIM | 602498.0001 | Disease | p.PRO285LEU | HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL 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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223634676
TFG_HUMAN RecName: Full=Protein TFG; AltName: Full=TRK-fused gene protein
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