No paralogue variants have been mapped to residue 429 for RYR1.
RYR1 | AARMIHSTNGLYNQFIKSLDSFSGKPRGSG>P<PAGTALPIEGVILSLQDLIIYFEPPSEDLQ | 459 |
RYR2 | TARVIRSTVFLFNRFIRGLDALSKKAKA-->-<-STVDLPIESVSLSLQDLIGYFHPPDEHLE | 471 |
RYR3 | AARIIRNTTALFSQFVSGN-----NRTA-->-<-APITLPIEEVLQTLQDLIAYFQPPEEEMR | 458 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P429L | c.1286C>T | Putative Benign | rs201054455 | SIFT: Polyphen: possibly damaging |