No paralogue variants have been mapped to residue 257 for RYR2.
RYR2 | YLIGGDVLRLLHGHMDECLTVPSGEHGEEQ>R<RTVHYEGGAVSVHARSLWRLETLRVAWSGS | 287 |
RYR1 | FVTGGHVLRLFHGHMDECLTISPAD-SDDQ>R<RLVYYEGGAVCTHARSLWRLEPLRISWSGS | 271 |
RYR3 | YLLGGHVVRLFHGH-DECLTIPSTDQNDSQ>H<RRIFYEAGGAGTRARSLWRVEPLRISWSGS | 276 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R257W | c.769C>T | Putative Benign | SIFT: Polyphen: |