No paralogue variants have been mapped to residue 428 for RYR2.
RYR2 | HMDDGISLSRSQHEESRTARVIRSTVFLFN>R<FIRGLDALSKKAKA----STVDLPIESVSL | 454 |
RYR1 | HMDDALSLTRCQQEESQAARMIHSTNGLYN>Q<FIKSLDSFSGKPRGSGPPAGTALPIEGVIL | 442 |
RYR3 | HMDDGLTLQRCQREESQAARIIRNTTALFS>Q<FVSGN-----NRTA----APITLPIEEVLQ | 441 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R428S | c.1284A>T | Putative Benign | SIFT: Polyphen: |