No paralogue variants have been mapped to residue 2605 for RYR1.
RYR1 | RAIMVDSMLHTVYRLSRGRSLTKAQRDVIE>D<CLMSLCRYIRPSMLQHLLRRLVFDVPILNE | 2635 |
RYR2 | HASLIDSLLHTVYRLSKGCSLTKAQRDSIE>V<CLLSICGQLRPSMMQHLLRRLVFDVPLLNE | 2601 |
RYR3 | CTSLIDSTLQTIYRLSKGRSLTKAQRDTIE>E<CLLAICNHLRPSMLQQLLRRLVFDVPQLNE | 2498 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2605N | c.7813G>A | Putative Benign | SIFT: Polyphen: | ||
p.D2605E | c.7815C>G | Putative Benign | SIFT: Polyphen: |