No paralogue variants have been mapped to residue 220 for RYR1.
RYR1 | ASFMQTLWNMNPICSR--CEEGFVTGGHVL>R<LFHGHMDECLTISPAD-SDDQRRLVYYEGG | 249 |
RYR2 | AAFQQTLWSVAPISSGSEAAQGYLIGGDVL>R<LLHGHMDECLTVPSGEHGEEQRRTVHYEGG | 265 |
RYR3 | ASFMQTLWNVHPTCSGSSIEEGYLLGGHVV>R<LFHGH-DECLTIPSTDQNDSQHRRIFYEAG | 254 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R220H | c.659G>A | Putative Benign | SIFT: Polyphen: |