No paralogue variants have been mapped to residue 2550 for RYR1.
RYR1 | HVLDVGFLPDMRAAASLDTATFSTTEMALA>L<NRYLCLAVLPLITKCAPLFAGTEHRAIMVD | 2580 |
RYR2 | HLLEVGFLPDLRAAASLDTAALSATDMALA>L<NRYLCTAVLPLLTRCAPLFAGTEHHASLID | 2546 |
RYR3 | HLLEVGFLPDLRASASLDTVSLSTTEAALA>L<NRYICSAVLPLLTRCAPLFAGTEHCTSLID | 2443 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2550V | c.7648C>G | Putative Benign | rs193922821 | SIFT: Polyphen: benign |