No paralogue variants have been mapped to residue 185 for RYR2.
RYR2 | GEACWWTIHPASKQRSEGEKVRVGDDLILV>S<VSSERYLHLSYGNGSLHVDAAFQQTLWSVA | 215 |
RYR1 | GEACWWTMHPASKQRSEGEKVRVGDDIILV>S<VSSERYLHLSTASGELQVDASFMQTLWNMN | 202 |
RYR3 | GEACWWTIHPASKQRSEGEKVRIGDDLILV>S<VSSERYLHLSVSNGNIQVDASFMQTLWNVH | 205 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S185T | c.554G>C | Putative Benign | SIFT: Polyphen: |