No paralogue variants have been mapped to residue 2647 for RYR1.
RYR1 | SMLQHLLRRLVFDVPILNEFAKMPLKLLTN>H<YERCWKYYCLPTGWANFGVTSEEELHLTRK | 2677 |
RYR2 | SMMQHLLRRLVFDVPLLNEHAKMPLKLLTN>H<YERCWKYYCLPGGWGNFGAASEEELHLSRK | 2643 |
RYR3 | SMLQQLLRRLVFDVPQLNEYCKMPLKLLTN>H<YEQCWKYYCLPSGWGSYGLAVEEELHLTEK | 2540 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2647Q | c.7941C>G | Putative Benign | rs375067194 | SIFT: deleterious Polyphen: benign |