Known Diseases associated with this Protein: |  HYPEREKPLEXIA 2
| HYPEREKPLEXIA 2 (HKPX2)
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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_035070 | Disease | p.GLY251ASP | Hyperekplexia 2 (HKPX2) | | Swiss-Prot | VAR_068246 | Disease | p.MET199ARG | Hyperekplexia 2 (HKPX2) | | OMIM | 138492.0001 | Disease | p.GLY229ASP | HYPEREKPLEXIA 2 | | OMIM | 138492.0003 | Disease | p.MET177ARG | HYPEREKPLEXIA 2 |
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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1346173
GLRB_HUMAN RecName: Full=Glycine receptor subunit beta; AltName: Full=Glycine receptor 58 kDa subunit; Flags: Precursor
4
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2
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2
