Known Diseases associated with this Protein: |  PONTOCEREBELLAR HYPOPLASIA 2C (PCH2C)
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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_054811 | Disease | p.ARG58TRP | Pontocerebellar hypoplasia 2C (PCH2C) | | Swiss-Prot | VAR_061149 | Polymorphism | p.LEU112VAL | N/A |
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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50401668
SEN34_HUMAN RecName: Full=tRNA-splicing endonuclease subunit Sen34; AltName: Full=Leukocyte receptor cluster member 5; AltName: Full=tRNA-intron endonuclease Sen34; Short=HsSen34
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