No paralogue variants have been mapped to residue 4222 for RYR2.
RYR2 | FCEDTIFEMQLAAQISESDLNERSANKEES>E<K-----ERPEEQGPRMAFFSILTVRSALFA | 4247 |
RYR1 | FCEDTIFEMQIAAQISEPEGEPETDEDEGA>G<AAEAGAEGAEEGAAGLEGTAATAAAGATAR | 4296 |
RYR3 | FCEDTIFEMQLASQISESDSADRPEEEEED>E<DSSYVLEIAGEEEEDGSLEPASAFAMACAS | 4148 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4222K | c.12664G>A | Putative Benign | SIFT: Polyphen: |