No paralogue variants have been mapped to residue 4082 for RYR2.
RYR2 | MESHKHYTQSETEFLLSCAETDENETLDYE>E<FVKRFHEPAKDIGFNVAVLLTNLSEHMPND | 4112 |
RYR1 | MDSQKQFSGPEIQFLLSCSEADENEMINCE>E<FANRFQEPARDIGFNVAVLLTNLSEHVPHD | 4156 |
RYR3 | MEGQKQYTQSEIDFLLSCAEADENDMFNYV>D<FVDRFHEPAKDIGFNVAVLLTNLSEHMPND | 4008 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4082K | c.12244G>A | Putative Benign | SIFT: Polyphen: |