No paralogue variants have been mapped to residue 223 for RYR1.
RYR1 | MQTLWNMNPICSR--CEEGFVTGGHVLRLF>H<GHMDECLTISPAD-SDDQRRLVYYEGGAVC | 252 |
RYR2 | QQTLWSVAPISSGSEAAQGYLIGGDVLRLL>H<GHMDECLTVPSGEHGEEQRRTVHYEGGAVS | 268 |
RYR3 | MQTLWNVHPTCSGSSIEEGYLLGGHVVRLF>H<GH-DECLTIPSTDQNDSQHRRIFYEAGGAG | 257 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H223R | c.668A>G | Putative Benign | SIFT: Polyphen: |