No paralogue variants have been mapped to residue 218 for RYR1.
RYR1 | VDASFMQTLWNMNPICSR--CEEGFVTGGH>V<LRLFHGHMDECLTISPAD-SDDQRRLVYYE | 247 |
RYR2 | VDAAFQQTLWSVAPISSGSEAAQGYLIGGD>V<LRLLHGHMDECLTVPSGEHGEEQRRTVHYE | 263 |
RYR3 | VDASFMQTLWNVHPTCSGSSIEEGYLLGGH>V<VRLFHGH-DECLTIPSTDQNDSQHRRIFYE | 252 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V218I | c.652G>A | Other Myopathy | rs193922759 | SIFT: Polyphen: | |
Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
Other Myopathy | Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674 |