No paralogue variants have been mapped to residue 4080 for RYR2.
RYR2 | KAMESHKHYTQSETEFLLSCAETDENETLD>Y<EEFVKRFHEPAKDIGFNVAVLLTNLSEHMP | 4110 |
RYR1 | KAMDSQKQFSGPEIQFLLSCSEADENEMIN>C<EEFANRFQEPARDIGFNVAVLLTNLSEHVP | 4154 |
RYR3 | KAMEGQKQYTQSEIDFLLSCAEADENDMFN>Y<VDFVDRFHEPAKDIGFNVAVLLTNLSEHMP | 4006 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Tyr4080Cys | c.12239A>G | Unknown | SIFT: Polyphen: |