No paralogue variants have been mapped to residue 2650 for RYR1.
RYR1 | QHLLRRLVFDVPILNEFAKMPLKLLTNHYE>R<CWKYYCLPTGWANFGVTSEEELHLTRKLFW | 2680 |
RYR2 | QHLLRRLVFDVPLLNEHAKMPLKLLTNHYE>R<CWKYYCLPGGWGNFGAASEEELHLSRKLFW | 2646 |
RYR3 | QQLLRRLVFDVPQLNEYCKMPLKLLTNHYE>Q<CWKYYCLPSGWGSYGLAVEEELHLTEKLFW | 2543 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2650H | c.7949G>A | Putative Benign | rs145733990 | SIFT: Polyphen: benign |