No paralogue variants have been mapped to residue 877 for RYR2.
RYR2 | TRDLLGPTVSLTQAAFTPIPVDTSQIVLPP>H<LERIREKLAENIHELWVMNKIELGWQYGPV | 907 |
RYR1 | GPHLVGPSRCLSHTDFVPCPVDTVQIVLPP>H<LERIREKLAENIHELWALTRIEQGWTYGPV | 895 |
RYR3 | IRDLLGTTQFLSQASFIPCPVDTSQVILPP>H<LEKIRDRLAENIHELWGMNKIELGWTFGKI | 894 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H877Y | c.2629C>T | Putative Benign | rs372575878 | SIFT: tolerated Polyphen: possibly damaging | |
p.H877P | c.2630A>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging |