No paralogue variants have been mapped to residue 291 for RYR2.
RYR2 | HYEGGAVSVHARSLWRLETLRVAWSGSHIR>W<GQPFRLRHVTTGKYLSLMEDKNLLLMDKEK | 321 |
RYR1 | YYEGGAVCTHARSLWRLEPLRISWSGSHLR>W<GQPLRVRHVTTGQYLALTEDQGLVVVDASK | 305 |
RYR3 | FYEAGGAGTRARSLWRVEPLRISWSGSNIR>W<GQAFRLRHLTTGHYLALTEDQGLILQDRAK | 310 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W291G | c.871T>G | Putative Benign | rs80303323 | SIFT: deleterious Polyphen: benign |