No paralogue variants have been mapped to residue 4361 for RYR2.
RYR2 | ANMPDPTQDEVRGDGEEGERKP-LEAALPS>E<DLTDLKELTEESDLLSD-----IFGLDLKR | 4386 |
RYR1 | AGMPDPTSDEVHGEQPAGPGGDADGEGASE>G<AGDAAEGAGDEEEAVHEAGPGGADGAVAVT | 4441 |
RYR3 | GDMPDPTQFGIHDDTMEAERAEVMEPGITT>E<LVHFIKGEKGDTDIMSD-----LFGLHPKK | 4288 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4361Q | c.13081G>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 | |||
p.Glu4361Lys | c.13081G>A | Unknown | SIFT: Polyphen: |