No paralogue variants have been mapped to residue 1076 for RYR2.
RYR2 | NKDSLREAVRTLLGYGYNLEAPDQDHAARA>E<VCSGTGERFRIFRAEKTYAVKAGRWYFEFE | 1106 |
RYR1 | NRDSLCQAVRTLLGYGYNIEPPDQEP-SQV>E<N-QSRCDRVRIFRAEKSYTVQSGRWYFEFE | 1092 |
RYR3 | NRDSLREAVRTFVGYGYNIEPSDQEL-ADS>A<VEKVSIDKIRFFRVERSYAVRSGKWYFEFE | 1092 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1076K | c.3226G>A | Putative Benign | SIFT: Polyphen: |