No paralogue variants have been mapped to residue 2864 for RYR1.
RYR1 | TEKKKTRKISQSAQTYDPREGYNPQPPDLS>A<VTLSRELQAMAEQLAENYHNTWGRKKKQEL | 2894 |
RYR2 | NRTRRISQTSQV--SVDAAHGYSPRAIDMS>N<VTLSRDLHAMAEMMAENYHNIWAKKKKMEL | 2860 |
RYR3 | RENEKLRSVSQA--NQ--GNSYSPAPLDLS>N<VVLSRELQGMVEVVAENYHNIWAKKKKLEL | 2755 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2864V | c.8591C>T | Putative Benign | SIFT: Polyphen: |