No paralogue variants have been mapped to residue 263 for RYR2.
RYR2 | VLRLLHGHMDECLTVPSGEHGEEQRRTVHY>E<GGAVSVHARSLWRLETLRVAWSGSHIRWGQ | 293 |
RYR1 | VLRLFHGHMDECLTISPAD-SDDQRRLVYY>E<GGAVCTHARSLWRLEPLRISWSGSHLRWGQ | 277 |
RYR3 | VVRLFHGH-DECLTIPSTDQNDSQHRRIFY>E<AGGAGTRARSLWRVEPLRISWSGSNIRWGQ | 282 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E263A | c.788A>C | Putative Benign | SIFT: Polyphen: |