Known Diseases associated with this Protein: |  BRUGADA SYNDROME 3
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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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| dbSNP | rs61738859 | Polymorphism | p.ALA48ASP | N/A | | dbSNP | rs10774053 | Polymorphism | p.MET1821VAL | N/A | | dbSNP | rs10848683 | Polymorphism | p.PRO1820LEU | N/A | | OMIM | 114205.0004 | Disease | p.ALA39VAL | BRUGADA SYNDROME 3 | | OMIM | 114205.0003 | Disease | p.GLY490ARG | BRUGADA SYNDROME 3 |
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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264681418
voltage-dependent L-type calcium channel subunit alpha-1C isoform 22 [Homo sapiens]
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