No paralogue variants have been mapped to residue 4078 for RYR2.
RYR2 | FHKAMESHKHYTQSETEFLLSCAETDENET>L<DYEEFVKRFHEPAKDIGFNVAVLLTNLSEH | 4108 |
RYR1 | FQKAMDSQKQFSGPEIQFLLSCSEADENEM>I<NCEEFANRFQEPARDIGFNVAVLLTNLSEH | 4152 |
RYR3 | FQKAMEGQKQYTQSEIDFLLSCAEADENDM>F<NYVDFVDRFHEPAKDIGFNVAVLLTNLSEH | 4004 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4078I | c.12232C>A | Putative Benign | SIFT: Polyphen: |