No paralogue variants have been mapped to residue 3061 for RYR2.
RYR2 | NCLHILGQTLDARTVMKTGLESVKSALRAF>L<DNAAEDLEKTMENLKQGQFTHTRNQPKGVT | 3091 |
RYR1 | NCLHILARSLDARTVMKSGPEIVKAGLRSF>F<ESASEDIEKMVENLRLGKVSQARTQVKGVG | 3126 |
RYR3 | SCLHILAQTLDTRTVMKSGSELVKAGLRAF>F<ENAAEDLEKTSENLKLGKFTHSRTQIKGVS | 2987 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3061V | c.9181C>G | Putative Benign | SIFT: deleterious Polyphen: benign |