No paralogue variants have been mapped to residue 270 for RYR2.
RYR2 | HMDECLTVPSGEHGEEQRRTVHYEGGAVSV>H<ARSLWRLETLRVAWSGSHIRWGQPFRLRHV | 300 |
RYR1 | HMDECLTISPAD-SDDQRRLVYYEGGAVCT>H<ARSLWRLEPLRISWSGSHLRWGQPLRVRHV | 284 |
RYR3 | H-DECLTIPSTDQNDSQHRRIFYEAGGAGT>R<ARSLWRVEPLRISWSGSNIRWGQAFRLRHL | 289 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H270Y | c.808C>T | Putative Benign | SIFT: Polyphen: |