No paralogue variants have been mapped to residue 2607 for RYR2.
RYR2 | CGQLRPSMMQHLLRRLVFDVPLLNEHAKMP>L<KLLTNHYERCWKYYCLPGGWGNFGAASEEE | 2637 |
RYR1 | CRYIRPSMLQHLLRRLVFDVPILNEFAKMP>L<KLLTNHYERCWKYYCLPTGWANFGVTSEEE | 2671 |
RYR3 | CNHLRPSMLQQLLRRLVFDVPQLNEYCKMP>L<KLLTNHYEQCWKYYCLPSGWGSYGLAVEEE | 2534 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2607P | c.7820T>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J. 2013 13(4):325-9. doi: 10.1038/tpj.2012.14. 22584458 |