No paralogue variants have been mapped to residue 1581 for RYR2.
RYR2 | NVFQFELGRIKNVMPLSAGLFKSEHKNPVP>Q<CPPRLHVQFLSHVLWSRMPNQFLKVDVSRI | 1611 |
RYR1 | NVIQFELGKQKNIMPLSAAMFQSERKNPAP>Q<CPPRLEMQMLMPVSWSRMPNHFLQVETRRA | 1619 |
RYR3 | SLFQFELGKLKNAMPLSAAIFRSEEKNPVP>Q<CPPRLDVQTIQPVLWSRMPNSFLKVETERV | 1515 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1581P | c.4742A>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. Forensic Sci Int. 2015 254:5-11. doi: 10.1016/j.forsciint.2015.06.023. 26164358 |