No paralogue variants have been mapped to residue 2566 for RYR2.
RYR2 | AGTEHHASLIDSLLHTVYRLSKGCSLTKAQ>R<DSIEVCLLSICGQLRPSMMQHLLRRLVFDV | 2596 |
RYR1 | AGTEHRAIMVDSMLHTVYRLSRGRSLTKAQ>R<DVIEDCLMSLCRYIRPSMLQHLLRRLVFDV | 2630 |
RYR3 | AGTEHCTSLIDSTLQTIYRLSKGRSLTKAQ>R<DTIEECLLAICNHLRPSMLQQLLRRLVFDV | 2493 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2566L | c.7697G>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.R2566W | c.7696C>T | Putative Benign | SIFT: Polyphen: | ||
p.R2566P | c.7697G>C | Putative Benign | SIFT: Polyphen: | ||
p.R2566Q | c.7697G>A | Putative Benign | SIFT: Polyphen: |