No paralogue variants have been mapped to residue 442 for RYR2.
RYR2 | ESRTARVIRSTVFLFNRFIRGLDALSKKAK>A<----STVDLPIESVSLSLQDLIGYFHPPDE | 468 |
RYR1 | ESQAARMIHSTNGLYNQFIKSLDSFSGKPR>G<SGPPAGTALPIEGVILSLQDLIIYFEPPSE | 456 |
RYR3 | ESQAARIIRNTTALFSQFVSGN-----NRT>A<----APITLPIEEVLQTLQDLIAYFQPPEE | 455 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A442S | c.1324G>T | Putative Benign | SIFT: Polyphen: |