No paralogue variants have been mapped to residue 2258 for RYR1.
RYR1 | MVTSCCRFLCYFCRISRQNQRSMFDHLSYL>L<ENSGIG--L-GMQGSTPLDVAAASVIDNNE | 2285 |
RYR2 | MVANCCRFLCYFCRISRQNQKAMFDHLSYL>L<ENSSVGLASPAMRGSTPLDVAAASVMDNNE | 2252 |
RYR3 | MVASCCRFLCYFCRISRQNQKAMFEHLSYL>L<ENSSVGLASPSMRGSTPLDVAASSVMDNNE | 2149 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2258P | c.6773T>C | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |