No paralogue variants have been mapped to residue 1594 for RYR2.
RYR2 | MPLSAGLFKSEHKNPVPQCPPRLHVQFLSH>V<LWSRMPNQFLKVDVSRISERQGWLVQCLDP | 1624 |
RYR1 | MPLSAAMFQSERKNPAPQCPPRLEMQMLMP>V<SWSRMPNHFLQVETRRAGERLGWAVQCQEP | 1632 |
RYR3 | MPLSAAIFRSEEKNPVPQCPPRLDVQTIQP>V<LWSRMPNSFLKVETERVSERHGWVVQCLEP | 1528 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Val1594Ile | c.4780G>A | Unknown | SIFT: Polyphen: |