No paralogue variants have been mapped to residue 1059 for RYR1.
RYR1 | ATKRSNRDSLCQAVRTLLGYGYNIEPPDQE>P<-SQVEN-QSRCDRVRIFRAEKSYTVQSGRW | 1087 |
RYR2 | RTKKSNKDSLREAVRTLLGYGYNLEAPDQD>H<AARAEVCSGTGERFRIFRAEKTYAVKAGRW | 1101 |
RYR3 | RTKKSNRDSLREAVRTFVGYGYNIEPSDQE>L<-ADSAVEKVSIDKIRFFRVERSYAVRSGKW | 1087 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1059S | c.3175C>T | Putative Benign | SIFT: tolerated Polyphen: benign |