No paralogue variants have been mapped to residue 1567 for RYR1.
RYR1 | TFFQVEPNTKLFPAVFVLPTHQNVIQFELG>K<QKNIMPLSAAMFQSERKNPAPQCPPRLEMQ | 1597 |
RYR2 | TYYQVEPSTKLFPAVFAQATSPNVFQFELG>R<IKNVMPLSAGLFKSEHKNPVPQCPPRLHVQ | 1589 |
RYR3 | TCYQVEPNTKVFPAVFLQPTSTSLFQFELG>K<LKNAMPLSAAIFRSEEKNPVPQCPPRLDVQ | 1493 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1567R | c.4700A>G | Putative Benign | SIFT: Polyphen: |