No paralogue variants have been mapped to residue 2819 for RYR2.
RYR2 | RTREGDSMALYNRTRRISQTSQV--SVDAA>H<GYSPRAIDMSNVTLSRDLHAMAEMMAENYH | 2849 |
RYR1 | KAREGEEEK--TEKKKTRKISQSAQTYDPR>E<GYNPQPPDLSAVTLSRELQAMAEQLAENYH | 2883 |
RYR3 | RTKEGEALVQQRENEKLRSVSQA--NQ--G>N<SYSPAPLDLSNVVLSRELQGMVEVVAENYH | 2744 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H2819Y | c.8455C>T | Putative Benign | SIFT: Polyphen: |