No paralogue variants have been mapped to residue 2552 for RYR2.
RYR2 | TAVLPLLTRCAPLFAGTEHHASLIDSLLHT>V<YRLSKGCSLTKAQRDSIEVCLLSICGQLRP | 2582 |
RYR1 | LAVLPLITKCAPLFAGTEHRAIMVDSMLHT>V<YRLSRGRSLTKAQRDVIEDCLMSLCRYIRP | 2616 |
RYR3 | SAVLPLLTRCAPLFAGTEHCTSLIDSTLQT>I<YRLSKGRSLTKAQRDTIEECLLAICNHLRP | 2479 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2552M | c.7654G>A | Putative Benign | SIFT: Polyphen: |