No paralogue variants have been mapped to residue 2516 for RYR2.
RYR2 | HLLEVGFLPDLRAAASLDTAALSATDMALA>L<NRYLCTAVLPLLTRCAPLFAGTEHHASLID | 2546 |
RYR1 | HVLDVGFLPDMRAAASLDTATFSTTEMALA>L<NRYLCLAVLPLITKCAPLFAGTEHRAIMVD | 2580 |
RYR3 | HLLEVGFLPDLRASASLDTVSLSTTEAALA>L<NRYICSAVLPLLTRCAPLFAGTEHCTSLID | 2443 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2516F | c.7546C>T | Putative Benign | SIFT: Polyphen: |