No paralogue variants have been mapped to residue 706 for RYR1.
RYR1 | AQATHLRVGWALTEGYTPYPGAGEGWGGNG>V<GDDLYSYGFDGLHLWTGHVARPVTSPGQHL | 736 |
RYR2 | AEATHLRVGWASTEGYSPYPGGGEEWGGNG>V<GDDLFSYGFDGLHLWSGCIARTVSSPNQHL | 748 |
RYR3 | AEPTHLRVGWASSSGYAPYPGGGEGWGGNG>V<GDDLYSYGFDGLHLWSGRIPRAVASINQHL | 735 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V706I | c.2116G>A | Putative Benign | rs141717554 | SIFT: Polyphen: probably damaging |