No paralogue variants have been mapped to residue 2483 for RYR2.
RYR2 | EPDMSAGFCPDHKAAMVLFLDRVYGIEVQD>F<LLHLLEVGFLPDLRAAASLDTAALSATDMA | 2513 |
RYR1 | QPKMSASFVPDHKASMVLFLDRVYGIENQD>F<LLHVLDVGFLPDMRAAASLDTATFSTTEMA | 2547 |
RYR3 | EPDMAANFCPDHKAPMVLFLDRVYGIKDQT>F<LLHLLEVGFLPDLRASASLDTVSLSTTEAA | 2410 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F2483I | c.7447T>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells. Cell Physiol Biochem. 2011 28(4):579-92. 22178870 | ||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
Inherited Arrhythmia | CPVT | Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. Cell Calcium. 2013 54(2):57-70. doi: 10.1016/j.ceca.2013.04.004. 23684427 |