No paralogue variants have been mapped to residue 4081 for RYR2.
RYR2 | AMESHKHYTQSETEFLLSCAETDENETLDY>E<EFVKRFHEPAKDIGFNVAVLLTNLSEHMPN | 4111 |
RYR1 | AMDSQKQFSGPEIQFLLSCSEADENEMINC>E<EFANRFQEPARDIGFNVAVLLTNLSEHVPH | 4155 |
RYR3 | AMEGQKQYTQSEIDFLLSCAEADENDMFNY>V<DFVDRFHEPAKDIGFNVAVLLTNLSEHMPN | 4007 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4081K | c.12241G>A | Putative Benign | SIFT: Polyphen: |