No paralogue variants have been mapped to residue 1780 for RYR1.
RYR1 | GRSTENGHPRHGLPGVGVTTSLRPPHHFSP>P<CFVAALPAAGAAEAPARLSPAIPLEALRDK | 1810 |
RYR2 | ------ENKKHGLPGIGLSTSLRPRMQFSS>P<SFVSI------SNECYQYSPEFPLDILKSK | 1790 |
RYR3 | ------ESKRHGLPGVGLRTCLKPGFRFST>P<CFVVT------GEDHQKQSPEIPLESLRTK | 1694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1780R | c.5339C>G | Putative Benign | rs369480385 | SIFT: tolerated Polyphen: possibly damaging | |
p.P1780L | c.5339C>T | Putative Benign | SIFT: Polyphen: | ||
p.P1780H | c.5339C>A | Putative Benign | SIFT: Polyphen: |