No paralogue variants have been mapped to residue 298 for RYR2.
RYR2 | SVHARSLWRLETLRVAWSGSHIRWGQPFRL>R<HVTTGKYLSLMEDKNLLLMDKEKADVKSTA | 328 |
RYR1 | CTHARSLWRLEPLRISWSGSHLRWGQPLRV>R<HVTTGQYLALTEDQGLVVVDASKAHTKATS | 312 |
RYR3 | GTRARSLWRVEPLRISWSGSNIRWGQAFRL>R<HLTTGHYLALTEDQGLILQDRAKSDTKSTA | 317 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R298C | c.892C>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.R298H | c.893G>A | Putative Benign | SIFT: Polyphen: |