No paralogue variants have been mapped to residue 2594 for RYR1.
RYR1 | KCAPLFAGTEHRAIMVDSMLHTVYRLSRGR>S<LTKAQRDVIEDCLMSLCRYIRPSMLQHLLR | 2624 |
RYR2 | RCAPLFAGTEHHASLIDSLLHTVYRLSKGC>S<LTKAQRDSIEVCLLSICGQLRPSMMQHLLR | 2590 |
RYR3 | RCAPLFAGTEHCTSLIDSTLQTIYRLSKGR>S<LTKAQRDTIEECLLAICNHLRPSMLQQLLR | 2487 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2594L | c.7781C>T | Putative Benign | SIFT: Polyphen: |