Paralogue Annotation for RYR2 residue 267

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 267
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 267

No paralogue variants have been mapped to residue 267 for RYR2.

RYR2	LHGHMDECLTVPSGEHGEEQRRTVHYEGGA>V<SVHARSLWRLETLRVAWSGSHIRWGQPFRL	297
RYR1	FHGHMDECLTISPAD-SDDQRRLVYYEGGA>V<CTHARSLWRLEPLRISWSGSHLRWGQPLRV	281
RYR3	FHGH-DECLTIPSTDQNDSQHRRIFYEAGG>A<GTRARSLWRVEPLRISWSGSNIRWGQAFRL	286
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V267G	c.800T>G	Putative Benign			SIFT: Polyphen: