No paralogue variants have been mapped to residue 3097 for RYR1.
RYR1 | CLHILARSLDARTVMKSGPEIVKAGLRSFF>E<SASEDIEKMVENLRLGKVSQARTQVKGVGQ | 3127 |
RYR2 | CLHILGQTLDARTVMKTGLESVKSALRAFL>D<NAAEDLEKTMENLKQGQFTHTRNQPKGVTQ | 3092 |
RYR3 | CLHILAQTLDTRTVMKSGSELVKAGLRAFF>E<NAAEDLEKTSENLKLGKFTHSRTQIKGVSQ | 2988 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3097K | c.9289G>A | Putative Benign | SIFT: Polyphen: |