No paralogue variants have been mapped to residue 2713 for RYR1.
RYR1 | FDSLAHKKYDPELYRMAMPCLCAIAGALPP>D<YVDASYSSKAEKKATVDAEGNFDPRPVETL | 2743 |
RYR2 | FDALSQKKYEQELFKLALPCLSAVAGALPP>D<YMESNYVSMMEKQSSMDSEGNFNPQPVDTS | 2709 |
RYR3 | FDSLSHKKYDPDLFRMALPCLSAIAGALPP>D<YLDTRITATLEKQISVDADGNFDPKPINTM | 2606 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2713N | c.8137G>A | Putative Benign | SIFT: Polyphen: |