No paralogue variants have been mapped to residue 3114 for RYR1.
RYR1 | GPEIVKAGLRSFFESASEDIEKMVENLRLG>K<VSQARTQVKGVGQNLTYTTVALLPVLTTLF | 3144 |
RYR2 | GLESVKSALRAFLDNAAEDLEKTMENLKQG>Q<FTHTRNQPKGVTQIINYTTVALLPMLSSLF | 3109 |
RYR3 | GSELVKAGLRAFFENAAEDLEKTSENLKLG>K<FTHSRTQIKGVSQNINYTTVALLPILTSIF | 3005 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3114R | c.9341A>G | Putative Benign | SIFT: Polyphen: |