No paralogue variants have been mapped to residue 3740 for RYR2.
RYR2 | -VKSFEEKEMEKQKLLYQQARLHDRGAAEM>V<LQTISASKGETGPMVAATLKLGIAILNGGN | 3770 |
RYR1 | VEVSFEEKQMEKQRLLYQQARLHTRGAAEM>V<LQMISACKGETGAMVSSTLKLGISILNGGN | 3808 |
RYR3 | KEKTFEEKEMEKQKTLYQQARLHERGAAEM>V<LQMISASKGEMSPMVVETLKLGIAILNGGN | 3660 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3740L | c.11218G>T | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |