Paralogue Annotation for RYR2 residue 2815

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2815
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2815

No paralogue variants have been mapped to residue 2815 for RYR2.

RYR2	WRIERTREGDSMALYNRTRRISQTSQV--S>V<DAAHGYSPRAIDMSNVTLSRDLHAMAEMMA	2845
RYR1	WTIEKAREGEEEK--TEKKKTRKISQSAQT>Y<DPREGYNPQPPDLSAVTLSRELQAMAEQLA	2879
RYR3	WTVERTKEGEALVQQRENEKLRSVSQA--N>Q<--GNSYSPAPLDLSNVVLSRELQGMVEVVA	2740
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2815M	c.8443G>A	Putative Benign			SIFT: Polyphen: