No paralogue variants have been mapped to residue 469 for RYR1.
RYR1 | GVILSLQDLIIYFEPPSEDLQHEEKQSKLR>S<LRNRQSLFQEEGMLSMVLNCIDRLNVYTTA | 499 |
RYR2 | SVSLSLQDLIGYFHPPDEHLEHEDKQNRLR>A<LKNRQNLFQEEGMINLVLECIDRLHVYSSA | 511 |
RYR3 | EVLQTLQDLIAYFQPPEEEMRHEDKQNKLR>S<LKNRQNLFKEEGMLALVLNCIDRLNVYNSV | 498 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S469T | c.1406G>C | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |