No paralogue variants have been mapped to residue 2617 for RYR1.
RYR1 | YRLSRGRSLTKAQRDVIEDCLMSLCRYIRP>S<MLQHLLRRLVFDVPILNEFAKMPLKLLTNH | 2647 |
RYR2 | YRLSKGCSLTKAQRDSIEVCLLSICGQLRP>S<MMQHLLRRLVFDVPLLNEHAKMPLKLLTNH | 2613 |
RYR3 | YRLSKGRSLTKAQRDTIEECLLAICNHLRP>S<MLQQLLRRLVFDVPQLNEYCKMPLKLLTNH | 2510 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2617L | c.7850C>T | Putative Benign | SIFT: Polyphen: |