No paralogue variants have been mapped to residue 1769 for RYR2.
RYR2 | ---ENKKHGLPGIGLSTSLRPRMQFSSPSF>V<SI------SNECYQYSPEFPLDILKSKTIQ | 1793 |
RYR1 | TENGHPRHGLPGVGVTTSLRPPHHFSPPCF>V<AALPAAGAAEAPARLSPAIPLEALRDKALR | 1813 |
RYR3 | ---ESKRHGLPGVGLRTCLKPGFRFSTPCF>V<VT------GEDHQKQSPEIPLESLRTKALS | 1697 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1769L | c.5305G>T | Putative Benign | SIFT: Polyphen: |