No paralogue variants have been mapped to residue 2590 for RYR1.
RYR1 | PLITKCAPLFAGTEHRAIMVDSMLHTVYRL>S<RGRSLTKAQRDVIEDCLMSLCRYIRPSMLQ | 2620 |
RYR2 | PLLTRCAPLFAGTEHHASLIDSLLHTVYRL>S<KGCSLTKAQRDSIEVCLLSICGQLRPSMMQ | 2586 |
RYR3 | PLLTRCAPLFAGTEHCTSLIDSTLQTIYRL>S<KGRSLTKAQRDTIEECLLAICNHLRPSMLQ | 2483 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2590F | c.7769C>T | Putative Benign | SIFT: Polyphen: |