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Known Diseases associated with this Protein: |  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
| VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (CPVT2)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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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_055234 | Disease | p.ARG33GLN | Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) | | Swiss-Prot | VAR_067037 | Polymorphism | p.ASN335LYS | N/A | | Swiss-Prot | VAR_016075 | Disease | p.ASP307HIS | Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) | | dbSNP | rs28730716 | Polymorphism | p.HIS244ARG | N/A | | Swiss-Prot | VAR_044118 | Disease | p.LEU167HIS | Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) | | dbSNP | rs4074536 | Polymorphism | p.THR66ALA | N/A | | dbSNP | rs10801999 | Polymorphism | p.VAL76MET | N/A | | OMIM | 114251.0001 | Disease | p.ASP307HIS | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 | | OMIM | 114251.0003 | Disease | p.LEU167HIS | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 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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23503043
CASQ2_HUMAN RecName: Full=Calsequestrin-2; AltName: Full=Calsequestrin, cardiac muscle isoform; Flags: Precursor
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