No paralogue variants have been mapped to residue 2570 for RYR2.
RYR2 | HHASLIDSLLHTVYRLSKGCSLTKAQRDSI>E<VCLLSICGQLRPSMMQHLLRRLVFDVPLLN | 2600 |
RYR1 | HRAIMVDSMLHTVYRLSRGRSLTKAQRDVI>E<DCLMSLCRYIRPSMLQHLLRRLVFDVPILN | 2634 |
RYR3 | HCTSLIDSTLQTIYRLSKGRSLTKAQRDTI>E<ECLLAICNHLRPSMLQQLLRRLVFDVPQLN | 2497 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2570K | c.7708G>A | Putative Benign | rs368673631 | SIFT: deleterious Polyphen: probably damaging |