No paralogue variants have been mapped to residue 4257 for RYR2.
RYR2 | EEQGPRMAFFSILTVRSALFALRYNILTLM>R<MLSLKSLKKQMKKVKKMTVKDMVTAFFSSY | 4287 |
RYR1 | EEGAAGLEGTAATAAAGATARVVAAAGRAL>R<GLSYRSLRRRVRRLRRLTAREAATAVAALL | 4336 |
RYR3 | GEEEEDGSLEPASAFAMACASVKRNVTDFL>K<RATLKNLRKQYRNVKKMTAKELVKVLFSFF | 4188 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4257Q | c.12770G>A | Putative Benign | rs371396204 | SIFT: tolerated Polyphen: benign |