No paralogue variants have been mapped to residue 469 for RYR2.
RYR2 | ----STVDLPIESVSLSLQDLIGYFHPPDE>H<LEHEDKQNRLRALKNRQNLFQEEGMINLVL | 499 |
RYR1 | SGPPAGTALPIEGVILSLQDLIIYFEPPSE>D<LQHEEKQSKLRSLRNRQSLFQEEGMLSMVL | 487 |
RYR3 | ----APITLPIEEVLQTLQDLIAYFQPPEE>E<MRHEDKQNKLRSLKNRQNLFKEEGMLALVL | 486 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H469Q | c.1407T>G | Putative Benign | SIFT: Polyphen: |