No paralogue variants have been mapped to residue 2836 for RYR2.
RYR2 | SQTSQV--SVDAAHGYSPRAIDMSNVTLSR>D<LHAMAEMMAENYHNIWAKKKKMELESKGGG | 2866 |
RYR1 | RKISQSAQTYDPREGYNPQPPDLSAVTLSR>E<LQAMAEQLAENYHNTWGRKKKQELEAKGGG | 2900 |
RYR3 | RSVSQA--NQ--GNSYSPAPLDLSNVVLSR>E<LQGMVEVVAENYHNIWAKKKKLELESKGGG | 2761 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2836N | c.8506G>A | Putative Benign | SIFT: Polyphen: | ||
p.D2836E | c.8508C>A | Putative Benign | SIFT: Polyphen: |