No paralogue variants have been mapped to residue 2811 for RYR1.
RYR1 | IDEELKTHPMLRPYKTFSEKDKEIYRWPIK>E<SLKAMIAWEWTIEKAREGEEEK--TEKKKT | 2839 |
RYR2 | YSDSSKVQPLMKPYKLLSEKEKEIYRWPIK>E<SLKTMLAWGWRIERTREGDSMALYNRTRRI | 2807 |
RYR3 | LDENVKTHPLIRPFKTLTEKEKEIYRWPAR>E<SLKTMLAVGWTVERTKEGEALVQQRENEKL | 2704 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2811A | c.8432A>C | Putative Benign | rs373238255 | SIFT: deleterious Polyphen: benign |