No paralogue variants have been mapped to residue 952 for RYR1.
RYR1 | QMSGETLKTLLALGCHVGMADEKAEDNLKK>T<KLPKTYMMSNGYKPAPLDLSHVRLTPAQTT | 982 |
RYR2 | QMSLETLKTLLALGCHVGISDEHAEDKVKK>M<KLPKNYQLTSGYKPAPMDLSFIKLTPSQEA | 994 |
RYR3 | QMSTETLKTLLALGCHIAHVNPAAEEDLKK>V<KLPKNYMMSNGYKPAPLDLSDVKLLPPQEI | 981 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T952S | c.2854A>T | Putative Benign | rs372468731 | SIFT: tolerated Polyphen: possibly damaging |