No paralogue variants have been mapped to residue 2154 for RYR1.
RYR1 | LHRQYDGLGELLRALPRAYTISPSSVEDTM>S<LLECLGQIRSLLIVQMGPQEENLMIQSIGN | 2184 |
RYR2 | LHRQYDGIGGLVRALPKTYTINGVSVEDTI>N<LLASLGQIRSLLSVRMGKEEEKLMIRGLGD | 2148 |
RYR3 | LRRQYDSIGELLQALRKTYTISHTSVSDTI>N<LLAALGQIRSLLSVRMGKEEELLMINGLGD | 2046 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2154R | c.6462C>A | Putative Benign | SIFT: tolerated Polyphen: benign |