Paralogue Annotation for RYR1 residue 458

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 458
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 458

No paralogue variants have been mapped to residue 458 for RYR1.

RYR1	GPPAGTALPIEGVILSLQDLIIYFEPPSED>L<QHEEKQSKLRSLRNRQSLFQEEGMLSMVLN	488
RYR2	---STVDLPIESVSLSLQDLIGYFHPPDEH>L<EHEDKQNRLRALKNRQNLFQEEGMINLVLE	500
RYR3	---APITLPIEEVLQTLQDLIAYFQPPEEE>M<RHEDKQNKLRSLKNRQNLFKEEGMLALVLN	487
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L458V	c.1372T>G	Putative Benign		rs369932139	SIFT: tolerated Polyphen: probably damaging
p.L458W	c.1373T>G	Putative Benign			SIFT: Polyphen: