Paralogue Annotation for RYR1 residue 3097

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3097
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3097

No paralogue variants have been mapped to residue 3097 for RYR1.

RYR1	CLHILARSLDARTVMKSGPEIVKAGLRSFF>E<SASEDIEKMVENLRLGKVSQARTQVKGVGQ	3127
RYR2	CLHILGQTLDARTVMKTGLESVKSALRAFL>D<NAAEDLEKTMENLKQGQFTHTRNQPKGVTQ	3092
RYR3	CLHILAQTLDTRTVMKSGSELVKAGLRAFF>E<NAAEDLEKTSENLKLGKFTHSRTQIKGVSQ	2988
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3097K	c.9289G>A	Putative Benign			SIFT: Polyphen: