No paralogue variants have been mapped to residue 3750 for RYR2.
RYR2 | EKQKLLYQQARLHDRGAAEMVLQTISASKG>E<TGPMVAATLKLGIAILNGGNSTVQQKMLDY | 3780 |
RYR1 | EKQRLLYQQARLHTRGAAEMVLQMISACKG>E<TGAMVSSTLKLGISILNGGNAEVQQKMLDY | 3818 |
RYR3 | EKQKTLYQQARLHERGAAEMVLQMISASKG>E<MSPMVVETLKLGIAILNGGNAGVQQKMLDY | 3670 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3750D | c.11250A>C | Putative Benign | SIFT: Polyphen: |