No paralogue variants have been mapped to residue 4084 for RYR1.
RYR1 | VEMILKFFDMFLKLKDIVGSEAFQDYVTDP>R<GLISKKDFQKAMDSQKQFSGPEIQFLLSCS | 4114 |
RYR2 | VEMILKFFDMFLKLKDLTSSDTFKEYDPDG>K<GVISKRDFHKAMESHKHYTQSETEFLLSCA | 4070 |
RYR3 | VEMILKFFDMFLKLKDLTSSDTFKEYDPDG>K<GIISKKEFQKAMEGQKQYTQSEIDFLLSCA | 3966 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4084C | c.12250C>T | Putative Benign | SIFT: Polyphen: | ||
p.R4084H | c.12251G>A | Putative Benign | SIFT: Polyphen: |