Paralogue Annotation for RYR2 residue 2817

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2817
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2817

No paralogue variants have been mapped to residue 2817 for RYR2.

RYR2	IERTREGDSMALYNRTRRISQTSQV--SVD>A<AHGYSPRAIDMSNVTLSRDLHAMAEMMAEN	2847
RYR1	IEKAREGEEEK--TEKKKTRKISQSAQTYD>P<REGYNPQPPDLSAVTLSRELQAMAEQLAEN	2881
RYR3	VERTKEGEALVQQRENEKLRSVSQA--NQ->-<GNSYSPAPLDLSNVVLSRELQGMVEVVAEN	2742
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2817T	c.8449G>A	Putative Benign			SIFT: tolerated Polyphen: benign
p.A2817V	c.8450C>T	Putative Benign			SIFT: Polyphen: