No paralogue variants have been mapped to residue 282 for RYR1.
RYR1 | CTHARSLWRLEPLRISWSGSHLRWGQPLRV>R<HVTTGQYLALTEDQGLVVVDASKAHTKATS | 312 |
RYR2 | SVHARSLWRLETLRVAWSGSHIRWGQPFRL>R<HVTTGKYLSLMEDKNLLLMDKEKADVKSTA | 328 |
RYR3 | GTRARSLWRVEPLRISWSGSNIRWGQAFRL>R<HLTTGHYLALTEDQGLILQDRAKSDTKSTA | 317 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R282Q | c.845G>A | Putative Benign | rs201164249 | SIFT: Polyphen: probably damaging |