No paralogue variants have been mapped to residue 287 for RYR1.
RYR1 | SLWRLEPLRISWSGSHLRWGQPLRVRHVTT>G<QYLALTEDQGLVVVDASKAHTKATSFCFRI | 317 |
RYR2 | SLWRLETLRVAWSGSHIRWGQPFRLRHVTT>G<KYLSLMEDKNLLLMDKEKADVKSTAFTFRS | 333 |
RYR3 | SLWRVEPLRISWSGSNIRWGQAFRLRHLTT>G<HYLALTEDQGLILQDRAKSDTKSTAFSFRA | 322 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G287R | c.859G>A | Putative Benign | rs201292282 | SIFT: Polyphen: probably damaging | |
p.G287R | c.859G>C | Putative Benign | rs201292282 | SIFT: Polyphen: probably damaging |