No paralogue variants have been mapped to residue 1059 for RYR2.
RYR2 | NPRLVPYTLLDDRTKKSNKDSLREAVRTLL>G<YGYNLEAPDQDHAARAEVCSGTGERFRIFR | 1089 |
RYR1 | NPRLVPYRLLDEATKRSNRDSLCQAVRTLL>G<YGYNIEPPDQEP-SQVEN-QSRCDRVRIFR | 1075 |
RYR3 | NPRLVPYALLDERTKKSNRDSLREAVRTFV>G<YGYNIEPSDQEL-ADSAVEKVSIDKIRFFR | 1075 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1059E | c.3176G>A | Putative Benign | SIFT: tolerated Polyphen: probably damaging |