Paralogue Annotation for RYR1 residue 480

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 480
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 480

No paralogue variants have been mapped to residue 480 for RYR1.

RYR1	YFEPPSEDLQHEEKQSKLRSLRNRQSLFQE>E<GMLSMVLNCIDRLNVYTTAAHFAEFAGEEA	510
RYR2	YFHPPDEHLEHEDKQNRLRALKNRQNLFQE>E<GMINLVLECIDRLHVYSSAAHFADVAGREA	522
RYR3	YFQPPEEEMRHEDKQNKLRSLKNRQNLFKE>E<GMLALVLNCIDRLNVYNSVAHFAGIAREES	509
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Glu480Lys	c.1438G>A	Unknown			SIFT: Polyphen: