Paralogue Annotation for RYR2 residue 500

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 500
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 500

No paralogue variants have been mapped to residue 500 for RYR2.

RYR2	LEHEDKQNRLRALKNRQNLFQEEGMINLVL>E<CIDRLHVYSSAAHFADVAGREAGESWKSIL	530
RYR1	LQHEEKQSKLRSLRNRQSLFQEEGMLSMVL>N<CIDRLNVYTTAAHFAEFAGEEAAESWKEIV	518
RYR3	MRHEDKQNKLRSLKNRQNLFKEEGMLALVL>N<CIDRLNVYNSVAHFAGIAREESGMAWKEIL	517
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E500A	c.1499A>C	Putative Benign			SIFT: Polyphen: