No paralogue variants have been mapped to residue 2146 for RYR1.
RYR1 | LVRAMFSLLHRQYDGLGELLRALPRAYTIS>P<SSVEDTMSLLECLGQIRSLLIVQMGPQEEN | 2176 |
RYR2 | LVRAMFVLLHRQYDGIGGLVRALPKTYTIN>G<VSVEDTINLLASLGQIRSLLSVRMGKEEEK | 2140 |
RYR3 | LVRMMFNLLRRQYDSIGELLQALRKTYTIS>H<TSVSDTINLLAALGQIRSLLSVRMGKEEEL | 2038 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2146A | c.6436C>G | Putative Benign | SIFT: Polyphen: |