Paralogue Annotation for RYR1 residue 516

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 516
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 516

No paralogue variants have been mapped to residue 516 for RYR1.

RYR1	VLNCIDRLNVYTTAAHFAEFAGEEAAESWK>E<IVNLLYELLASLIRGNRSNCALFSTNLDWL	546
RYR2	VLECIDRLHVYSSAAHFADVAGREAGESWK>S<ILNSLYELLAALIRGNRKNCAQFSGSLDWL	558
RYR3	VLNCIDRLNVYNSVAHFAGIAREESGMAWK>E<ILNLLYKLLAALIRGNRNNCAQFSNNLDWL	545
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E516D	c.1548G>C	Putative Benign			SIFT: Polyphen: