No paralogue variants have been mapped to residue 2812 for RYR2.
RYR2 | MLAWGWRIERTREGDSMALYNRTRRISQTS>Q<V--SVDAAHGYSPRAIDMSNVTLSRDLHAM | 2840 |
RYR1 | MIAWEWTIEKAREGEEEK--TEKKKTRKIS>Q<SAQTYDPREGYNPQPPDLSAVTLSRELQAM | 2874 |
RYR3 | MLAVGWTVERTKEGEALVQQRENEKLRSVS>Q<A--NQ--GNSYSPAPLDLSNVVLSRELQGM | 2735 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2812E | c.8434C>G | Putative Benign | rs377285717 | SIFT: tolerated Polyphen: benign |