No paralogue variants have been mapped to residue 2857 for RYR1.
RYR1 | GEEEK--TEKKKTRKISQSAQTYDPREGYN>P<QPPDLSAVTLSRELQAMAEQLAENYHNTWG | 2887 |
RYR2 | GDSMALYNRTRRISQTSQV--SVDAAHGYS>P<RAIDMSNVTLSRDLHAMAEMMAENYHNIWA | 2853 |
RYR3 | GEALVQQRENEKLRSVSQA--NQ--GNSYS>P<APLDLSNVVLSRELQGMVEVVAENYHNIWA | 2748 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2857L | c.8570C>T | Putative Benign | SIFT: Polyphen: |