No paralogue variants have been mapped to residue 2153 for RYR1.
RYR1 | LLHRQYDGLGELLRALPRAYTISPSSVEDT>M<SLLECLGQIRSLLIVQMGPQEENLMIQSIG | 2183 |
RYR2 | LLHRQYDGIGGLVRALPKTYTINGVSVEDT>I<NLLASLGQIRSLLSVRMGKEEEKLMIRGLG | 2147 |
RYR3 | LLRRQYDSIGELLQALRKTYTISHTSVSDT>I<NLLAALGQIRSLLSVRMGKEEELLMINGLG | 2045 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2153T | c.6458T>C | Putative Benign | SIFT: Polyphen: | ||
p.M2153I | c.6459G>A | Putative Benign | SIFT: Polyphen: |