Paralogue Annotation for RYR1 residue 218

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 218
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 218

No paralogue variants have been mapped to residue 218 for RYR1.



RYR1VDASFMQTLWNMNPICSR--CEEGFVTGGH>V<LRLFHGHMDECLTISPAD-SDDQRRLVYYE247
RYR2VDAAFQQTLWSVAPISSGSEAAQGYLIGGD>V<LRLLHGHMDECLTVPSGEHGEEQRRTVHYE263
RYR3VDASFMQTLWNVHPTCSGSSIEEGYLLGGH>V<VRLFHGH-DECLTIPSTDQNDSQHRRIFYE252
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V218Ic.652G>A Other MyopathySIFT:
Polyphen:
ReportsOther 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