No paralogue variants have been mapped to residue 995 for RYR1.
RYR1 | KPAPLDLSHVRLTPAQTTLVDRLAENGHNV>W<ARDRVGQGWSYSAVQDIPARRNPRLVPYRL | 1025 |
RYR2 | KPAPMDLSFIKLTPSQEAMVDKLAENAHNV>W<ARDRIRQGWTYGIQQDVKNRRNPRLVPYTL | 1037 |
RYR3 | KPAPLDLSDVKLLPPQEILVDKLAENAHNV>W<AKDRIKQGWTYGIQQDLKNKRNPRLVPYAL | 1024 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W995C | c.2985G>C | Putative Benign | SIFT: Polyphen: |