No paralogue variants have been mapped to residue 1583 for RYR2.
RYR2 | FQFELGRIKNVMPLSAGLFKSEHKNPVPQC>P<PRLHVQFLSHVLWSRMPNQFLKVDVSRISE | 1613 |
RYR1 | IQFELGKQKNIMPLSAAMFQSERKNPAPQC>P<PRLEMQMLMPVSWSRMPNHFLQVETRRAGE | 1621 |
RYR3 | FQFELGKLKNAMPLSAAIFRSEEKNPVPQC>P<PRLDVQTIQPVLWSRMPNSFLKVETERVSE | 1517 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1583S | c.4747C>T | Cardiomyopathy | rs200070226 | SIFT: deleterious Polyphen: probably damaging | |
Reports | Cardiomyopathy | ARVD/C | Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964 |