No paralogue variants have been mapped to residue 887 for RYR2.
RYR2 | LTQAAFTPIPVDTSQIVLPPHLERIREKLA>E<NIHELWVMNKIELGWQYGPVRDDNKRQHPC | 917 |
RYR1 | LSHTDFVPCPVDTVQIVLPPHLERIREKLA>E<NIHELWALTRIEQGWTYGPVRDDNKRLHPC | 905 |
RYR3 | LSQASFIPCPVDTSQVILPPHLEKIRDRLA>E<NIHELWGMNKIELGWTFGKIRDDNKRQHPC | 904 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E887K | c.2659G>A | Putative Benign | rs180862949 | SIFT: deleterious Polyphen: probably damaging |