No paralogue variants have been mapped to residue 464 for RYR2.
RYR2 | KKAKA----STVDLPIESVSLSLQDLIGYF>H<PPDEHLEHEDKQNRLRALKNRQNLFQEEGM | 494 |
RYR1 | GKPRGSGPPAGTALPIEGVILSLQDLIIYF>E<PPSEDLQHEEKQSKLRSLRNRQSLFQEEGM | 482 |
RYR3 | -NRTA----APITLPIEEVLQTLQDLIAYF>Q<PPEEEMRHEDKQNKLRSLKNRQNLFKEEGM | 481 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H464Q | c.1392C>A | Putative Benign | SIFT: Polyphen: |