Paralogue Annotation for RYR2 residue 2570

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2570
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2570

No paralogue variants have been mapped to residue 2570 for RYR2.

RYR2	HHASLIDSLLHTVYRLSKGCSLTKAQRDSI>E<VCLLSICGQLRPSMMQHLLRRLVFDVPLLN	2600
RYR1	HRAIMVDSMLHTVYRLSRGRSLTKAQRDVI>E<DCLMSLCRYIRPSMLQHLLRRLVFDVPILN	2634
RYR3	HCTSLIDSTLQTIYRLSKGRSLTKAQRDTI>E<ECLLAICNHLRPSMLQQLLRRLVFDVPQLN	2497
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2570K	c.7708G>A	Putative Benign		rs368673631	SIFT: deleterious Polyphen: probably damaging