No paralogue variants have been mapped to residue 4228 for RYR2.
RYR2 | AAQISESDLNERSANKEESEK-----ERPE>E<QGPRMAFFSILTVRSALFALRYNILTLMRM | 4258 |
RYR1 | AAQISEPEGEPETDEDEGAGAAEAGAEGAE>E<GAAGLEGTAATAAAGATARVVAAAGRALRG | 4307 |
RYR3 | ASQISESDSADRPEEEEEDEDSSYVLEIAG>E<EEEDGSLEPASAFAMACASVKRNVTDFLKR | 4159 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4228D | c.12684G>T | Putative Benign | SIFT: Polyphen: |