No paralogue variants have been mapped to residue 2829 for RYR2.
RYR2 | YNRTRRISQTSQV--SVDAAHGYSPRAIDM>S<NVTLSRDLHAMAEMMAENYHNIWAKKKKME | 2859 |
RYR1 | -TEKKKTRKISQSAQTYDPREGYNPQPPDL>S<AVTLSRELQAMAEQLAENYHNTWGRKKKQE | 2893 |
RYR3 | QRENEKLRSVSQA--NQ--GNSYSPAPLDL>S<NVVLSRELQGMVEVVAENYHNIWAKKKKLE | 2754 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2829N | c.8486G>A | Putative Benign | SIFT: Polyphen: |