Known Diseases associated with this Protein: |  MYOCLONUS-DYSTONIA 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_064579 | Polymorphism | p.LYS327GLU | N/A | | Swiss-Prot | VAR_014674 | Polymorphism | p.PRO310SER | N/A | | dbSNP | rs1801028 | Polymorphism | p.SER311CYS | N/A | | Swiss-Prot | VAR_017143 | Polymorphism | p.VAL154ILE | N/A | | OMIM | 126450.0001 | Disease | p.VAL154ILE | MYOCLONUS-DYSTONIA 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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118206
DRD2_HUMAN RecName: Full=D(2) dopamine receptor; AltName: Full=Dopamine D2 receptor
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