No paralogue variants have been mapped to residue 1650 for RYR2.
RYR2 | QCLDPLQFMSLHIPEENRSVDILELTEQEE>L<LKFHYHTLRLYSAVCALGNHRVAHALCSHV | 1680 |
RYR1 | QCQEPLTMMALHIPEENRCMDILELSERLD>L<QRFHSHTLRLYRAVCALGNNRVAHALCSHV | 1688 |
RYR3 | QCLEPLQMMALHIPEENRCVDILELCEQED>L<MRFHYHTLRLYSAVCALGNSRVAYALCSHV | 1584 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1650F | c.4950G>C | Putative Benign | rs376251968 | SIFT: deleterious Polyphen: probably damaging |