No paralogue variants have been mapped to residue 414 for RYR1.
RYR1 | DDALSLTRCQQEESQAARMIHSTNGLYNQF>I<KSLDSFSGKPRGSGPPAGTALPIEGVILSL | 444 |
RYR2 | DDGISLSRSQHEESRTARVIRSTVFLFNRF>I<RGLDALSKKAKA----STVDLPIESVSLSL | 456 |
RYR3 | DDGLTLQRCQREESQAARIIRNTTALFSQF>V<SGN-----NRTA----APITLPIEEVLQTL | 443 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I414M | c.1242C>G | Putative Benign | SIFT: deleterious Polyphen: probably damaging |