No paralogue variants have been mapped to residue 467 for RYR2.
RYR2 | KA----STVDLPIESVSLSLQDLIGYFHPP>D<EHLEHEDKQNRLRALKNRQNLFQEEGMINL | 497 |
RYR1 | RGSGPPAGTALPIEGVILSLQDLIIYFEPP>S<EDLQHEEKQSKLRSLRNRQSLFQEEGMLSM | 485 |
RYR3 | TA----APITLPIEEVLQTLQDLIAYFQPP>E<EEMRHEDKQNKLRSLKNRQNLFKEEGMLAL | 484 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D467N | c.1399G>A | Putative Benign | SIFT: Polyphen: |