No paralogue variants have been mapped to residue 871 for RYR1.
RYR1 | PSRCLSHTDFVPCPVDTVQIVLPPHLERIR>E<KLAENIHELWALTRIEQGWTYGPVRDDNKR | 901 |
RYR2 | PTVSLTQAAFTPIPVDTSQIVLPPHLERIR>E<KLAENIHELWVMNKIELGWQYGPVRDDNKR | 913 |
RYR3 | TTQFLSQASFIPCPVDTSQVILPPHLEKIR>D<RLAENIHELWGMNKIELGWTFGKIRDDNKR | 900 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E871K | c.2611G>A | Putative Benign | rs267605463 | SIFT: deleterious Polyphen: probably damaging |