No paralogue variants have been mapped to residue 704 for RYR1.
RYR1 | LTAQATHLRVGWALTEGYTPYPGAGEGWGG>N<GVGDDLYSYGFDGLHLWTGHVARPVTSPGQ | 734 |
RYR2 | VTAEATHLRVGWASTEGYSPYPGGGEEWGG>N<GVGDDLFSYGFDGLHLWSGCIARTVSSPNQ | 746 |
RYR3 | LTAEPTHLRVGWASSSGYAPYPGGGEGWGG>N<GVGDDLYSYGFDGLHLWSGRIPRAVASINQ | 733 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N704S | c.2111A>G | Putative Benign | SIFT: Polyphen: |