No paralogue variants have been mapped to residue 2851 for RYR1.
RYR1 | IEKAREGEEEK--TEKKKTRKISQSAQTYD>P<REGYNPQPPDLSAVTLSRELQAMAEQLAEN | 2881 |
RYR2 | IERTREGDSMALYNRTRRISQTSQV--SVD>A<AHGYSPRAIDMSNVTLSRDLHAMAEMMAEN | 2847 |
RYR3 | VERTKEGEALVQQRENEKLRSVSQA--NQ->-<GNSYSPAPLDLSNVVLSRELQGMVEVVAEN | 2742 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2851S | c.8551C>T | Putative Benign | SIFT: Polyphen: |