No paralogue variants have been mapped to residue 2604 for RYR1.
RYR1 | HRAIMVDSMLHTVYRLSRGRSLTKAQRDVI>E<DCLMSLCRYIRPSMLQHLLRRLVFDVPILN | 2634 |
RYR2 | HHASLIDSLLHTVYRLSKGCSLTKAQRDSI>E<VCLLSICGQLRPSMMQHLLRRLVFDVPLLN | 2600 |
RYR3 | HCTSLIDSTLQTIYRLSKGRSLTKAQRDTI>E<ECLLAICNHLRPSMLQQLLRRLVFDVPQLN | 2497 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2604K | c.7810G>A | Putative Benign | SIFT: Polyphen: |