No paralogue variants have been mapped to residue 2856 for RYR1.
RYR1 | EGEEEK--TEKKKTRKISQSAQTYDPREGY>N<PQPPDLSAVTLSRELQAMAEQLAENYHNTW | 2886 |
RYR2 | EGDSMALYNRTRRISQTSQV--SVDAAHGY>S<PRAIDMSNVTLSRDLHAMAEMMAENYHNIW | 2852 |
RYR3 | EGEALVQQRENEKLRSVSQA--NQ--GNSY>S<PAPLDLSNVVLSRELQGMVEVVAENYHNIW | 2747 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N2856T | c.8567A>C | Putative Benign | SIFT: tolerated Polyphen: benign |