No paralogue variants have been mapped to residue 3530 for RYR2.
RYR2 | TEDEVRDIIRSNIHLQGKLE-DPAIRWQMA>L<YKDLPNRTDDTSDPEKTVERVLDIANVLFH | 3560 |
RYR1 | TDEEVREFLHNNLHLQGKVEGSPSLRWQMA>L<YRGVPGREEDADDPEKIVRRV--------- | 3596 |
RYR3 | TDEEVREHLRNNLHLQEKSD-DPAVKWQLN>L<YKDVLK-SEEPFNPEKTVERV--------- | 3451 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3530I | c.10588C>A | Putative Benign | SIFT: deleterious Polyphen: benign |