Paralogue Annotation for RYR2 residue 270

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 270
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 270

No paralogue variants have been mapped to residue 270 for RYR2.

RYR2	HMDECLTVPSGEHGEEQRRTVHYEGGAVSV>H<ARSLWRLETLRVAWSGSHIRWGQPFRLRHV	300
RYR1	HMDECLTISPAD-SDDQRRLVYYEGGAVCT>H<ARSLWRLEPLRISWSGSHLRWGQPLRVRHV	284
RYR3	H-DECLTIPSTDQNDSQHRRIFYEAGGAGT>R<ARSLWRVEPLRISWSGSNIRWGQAFRLRHL	289
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H270Y	c.808C>T	Putative Benign			SIFT: Polyphen: