No paralogue variants have been mapped to residue 284 for RYR1.
RYR1 | HARSLWRLEPLRISWSGSHLRWGQPLRVRH>V<TTGQYLALTEDQGLVVVDASKAHTKATSFC | 314 |
RYR2 | HARSLWRLETLRVAWSGSHIRWGQPFRLRH>V<TTGKYLSLMEDKNLLLMDKEKADVKSTAFT | 330 |
RYR3 | RARSLWRVEPLRISWSGSNIRWGQAFRLRH>L<TTGHYLALTEDQGLILQDRAKSDTKSTAFS | 319 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V284I | c.850G>A | Putative Benign | rs201388370 | SIFT: Polyphen: benign |