No paralogue variants have been mapped to residue 3054 for RYR2.
RYR2 | NDATSIVNCLHILGQTLDARTVMKTGLESV>K<SALRAFLDNAAEDLEKTMENLKQGQFTHTR | 3084 |
RYR1 | TDAPAVVNCLHILARSLDARTVMKSGPEIV>K<AGLRSFFESASEDIEKMVENLRLGKVSQAR | 3119 |
RYR3 | SDSTTMVSCLHILAQTLDTRTVMKSGSELV>K<AGLRAFFENAAEDLEKTSENLKLGKFTHSR | 2980 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Lys3054Arg | c.9161A>G | Unknown | SIFT: Polyphen: |