Paralogue Annotation for RYR2 residue 3061

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3061
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3061

No paralogue variants have been mapped to residue 3061 for RYR2.

RYR2	NCLHILGQTLDARTVMKTGLESVKSALRAF>L<DNAAEDLEKTMENLKQGQFTHTRNQPKGVT	3091
RYR1	NCLHILARSLDARTVMKSGPEIVKAGLRSF>F<ESASEDIEKMVENLRLGKVSQARTQVKGVG	3126
RYR3	SCLHILAQTLDTRTVMKSGSELVKAGLRAF>F<ENAAEDLEKTSENLKLGKFTHSRTQIKGVS	2987
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3061V	c.9181C>G	Putative Benign			SIFT: deleterious Polyphen: benign