No paralogue variants have been mapped to residue 1596 for RYR2.
RYR2 | LSAGLFKSEHKNPVPQCPPRLHVQFLSHVL>W<SRMPNQFLKVDVSRISERQGWLVQCLDPLQ | 1626 |
RYR1 | LSAAMFQSERKNPAPQCPPRLEMQMLMPVS>W<SRMPNHFLQVETRRAGERLGWAVQCQEPLT | 1634 |
RYR3 | LSAAIFRSEEKNPVPQCPPRLDVQTIQPVL>W<SRMPNSFLKVETERVSERHGWVVQCLEPLQ | 1530 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W1596R | c.4786T>A | Putative Benign | SIFT: Polyphen: |