No paralogue variants have been mapped to residue 4543 for RYR2.
RYR2 | FYKVSTSSVVEGKE------LPTRSSSENA>K<-VTSLDS-----SSHRIIAVHYVLEESSGY | 4567 |
RYR1 | FYKVSDSPPGEDDMEGSAAGDVSGAGSGGS>S<GW-GLGAGEEAEGDEDENMVYYFLEESTGY | 4639 |
RYR3 | FYKVTEEPLEEETE------DVANLWN--->-<---SFND-----EEEEEAMVFFVLQESTGY | 4472 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4543E | c.13627A>G | Putative Benign | SIFT: Polyphen: |