No paralogue variants have been mapped to residue 2539 for RYR1.
RYR1 | VYGIENQDFLLHVLDVGFLPDMRAAASLDT>A<TFSTTEMALALNRYLCLAVLPLITKCAPLF | 2569 |
RYR2 | VYGIEVQDFLLHLLEVGFLPDLRAAASLDT>A<ALSATDMALALNRYLCTAVLPLLTRCAPLF | 2535 |
RYR3 | VYGIKDQTFLLHLLEVGFLPDLRASASLDT>V<SLSTTEAALALNRYICSAVLPLLTRCAPLF | 2432 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2539V | c.7616C>T | Putative Benign | SIFT: Polyphen: |