No paralogue variants have been mapped to residue 2817 for RYR2.
RYR2 | IERTREGDSMALYNRTRRISQTSQV--SVD>A<AHGYSPRAIDMSNVTLSRDLHAMAEMMAEN | 2847 |
RYR1 | IEKAREGEEEK--TEKKKTRKISQSAQTYD>P<REGYNPQPPDLSAVTLSRELQAMAEQLAEN | 2881 |
RYR3 | VERTKEGEALVQQRENEKLRSVSQA--NQ->-<GNSYSPAPLDLSNVVLSRELQGMVEVVAEN | 2742 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2817T | c.8449G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.A2817V | c.8450C>T | Putative Benign | SIFT: Polyphen: |