Paralogue Annotation for RYR2 residue 2567

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2567
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2567

No paralogue variants have been mapped to residue 2567 for RYR2.

RYR2	GTEHHASLIDSLLHTVYRLSKGCSLTKAQR>D<SIEVCLLSICGQLRPSMMQHLLRRLVFDVP	2597
RYR1	GTEHRAIMVDSMLHTVYRLSRGRSLTKAQR>D<VIEDCLMSLCRYIRPSMLQHLLRRLVFDVP	2631
RYR3	GTEHCTSLIDSTLQTIYRLSKGRSLTKAQR>D<TIEECLLAICNHLRPSMLQQLLRRLVFDVP	2494
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2567Y	c.7699G>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.D2567N	c.7699G>A	Putative Benign			SIFT: Polyphen: