Paralogue Annotation for RYR1 residue 462

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 462
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 462

No paralogue variants have been mapped to residue 462 for RYR1.

RYR1	GTALPIEGVILSLQDLIIYFEPPSEDLQHE>E<KQSKLRSLRNRQSLFQEEGMLSMVLNCIDR	492
RYR2	TVDLPIESVSLSLQDLIGYFHPPDEHLEHE>D<KQNRLRALKNRQNLFQEEGMINLVLECIDR	504
RYR3	PITLPIEEVLQTLQDLIAYFQPPEEEMRHE>D<KQNKLRSLKNRQNLFKEEGMLALVLNCIDR	491
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E462K	c.1384G>A	Putative Benign		rs199592055	SIFT: Polyphen: probably damaging