No paralogue variants have been mapped to residue 2680 for RYR2.
RYR2 | DALSQKKYEQELFKLALPCLSAVAGALPPD>Y<MESNYVSMMEKQSSMDSEGNFNPQPVDTSN | 2710 |
RYR1 | DSLAHKKYDPELYRMAMPCLCAIAGALPPD>Y<VDASYSSKAEKKATVDAEGNFDPRPVETLN | 2744 |
RYR3 | DSLSHKKYDPDLFRMALPCLSAIAGALPPD>Y<LDTRITATLEKQISVDADGNFDPKPINTMN | 2607 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2680D | c.8038T>G | Putative Benign | rs181732213 | SIFT: deleterious Polyphen: probably damaging | |
p.Y2680H | c.8038T>C | Putative Benign | SIFT: Polyphen: |