No paralogue variants have been mapped to residue 865 for RYR1.
RYR1 | GPHLVGPSRCLSHTDFVPCPVDTVQIVLPP>H<LERIREKLAENIHELWALTRIEQGWTYGPV | 895 |
RYR2 | TRDLLGPTVSLTQAAFTPIPVDTSQIVLPP>H<LERIREKLAENIHELWVMNKIELGWQYGPV | 907 |
RYR3 | IRDLLGTTQFLSQASFIPCPVDTSQVILPP>H<LEKIRDRLAENIHELWGMNKIELGWTFGKI | 894 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H865L | c.2594A>T | Putative Benign | rs371862065 | SIFT: deleterious Polyphen: probably damaging | |
p.H865Y | c.2593C>T | Putative Benign | SIFT: Polyphen: |