Known Diseases associated with this Protein: |  RENPENNING SYNDROME
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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_036357 | Polymorphism | p.ARG224TRP | N/A | | OMIM | 300463.0007 | Disease | p.TYR65CYS | RENPENNING SYNDROME |
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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74735456
PQBP1_HUMAN RecName: Full=Polyglutamine-binding protein 1; Short=PQBP-1; AltName: Full=38 kDa nuclear protein containing a WW domain; Short=Npw38; AltName: Full=Polyglutamine tract-binding protein 1
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