No paralogue variants have been mapped to residue 1091 for RYR2.
RYR2 | GYNLEAPDQDHAARAEVCSGTGERFRIFRA>E<KTYAVKAGRWYFEFETVTAGDMRVGWSRPG | 1121 |
RYR1 | GYNIEPPDQEP-SQVEN-QSRCDRVRIFRA>E<KSYTVQSGRWYFEFEAVTTGEMRVGWARPE | 1107 |
RYR3 | GYNIEPSDQEL-ADSAVEKVSIDKIRFFRV>E<RSYAVRSGKWYFEFEVVTGGDMRVGWARPG | 1107 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1091K | c.3271G>A | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |