No paralogue variants have been mapped to residue 424 for RYR2.
RYR2 | HHEGHMDDGISLSRSQHEESRTARVIRSTV>F<LFNRFIRGLDALSKKAKA----STVDLPIE | 450 |
RYR1 | HQEGHMDDALSLTRCQQEESQAARMIHSTN>G<LYNQFIKSLDSFSGKPRGSGPPAGTALPIE | 438 |
RYR3 | HQEGHMDDGLTLQRCQREESQAARIIRNTT>A<LFSQFVSGN-----NRTA----APITLPIE | 437 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F424L | c.1272C>G | Putative Benign | SIFT: Polyphen: |