No paralogue variants have been mapped to residue 1685 for RYR1.
RYR1 | RLDLQRFHSHTLRLYRAVCALGNNRVAHAL>C<SHVDQAQLLHALEDAHLPGPLRAGYYDLLI | 1715 |
RYR2 | QEELLKFHYHTLRLYSAVCALGNHRVAHAL>C<SHVDEPQLLYAIENKYMPGLLRAGYYDLLI | 1707 |
RYR3 | QEDLMRFHYHTLRLYSAVCALGNSRVAYAL>C<SHVDLSQLFYAIDNKYLPGLLRSGFYDLLI | 1611 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1685Y | c.5054G>A | Putative Benign | rs371686683 | SIFT: deleterious Polyphen: probably damaging | |
p.C1685G | c.5053T>G | Putative Benign | SIFT: Polyphen: |