Paralogue Annotation for RYR2 residue 3062

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3062
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3062

No paralogue variants have been mapped to residue 3062 for RYR2.

RYR2	CLHILGQTLDARTVMKTGLESVKSALRAFL>D<NAAEDLEKTMENLKQGQFTHTRNQPKGVTQ	3092
RYR1	CLHILARSLDARTVMKSGPEIVKAGLRSFF>E<SASEDIEKMVENLRLGKVSQARTQVKGVGQ	3127
RYR3	CLHILAQTLDTRTVMKSGSELVKAGLRAFF>E<NAAEDLEKTSENLKLGKFTHSRTQIKGVSQ	2988
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3062G	c.9185A>G	Putative Benign			SIFT: Polyphen: