Paralogue Annotation for RYR1 residue 483

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 483
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 483

No paralogue variants have been mapped to residue 483 for RYR1.

RYR1	PPSEDLQHEEKQSKLRSLRNRQSLFQEEGM>L<SMVLNCIDRLNVYTTAAHFAEFAGEEAAES	513
RYR2	PPDEHLEHEDKQNRLRALKNRQNLFQEEGM>I<NLVLECIDRLHVYSSAAHFADVAGREAGES	525
RYR3	PPEEEMRHEDKQNKLRSLKNRQNLFKEEGM>L<ALVLNCIDRLNVYNSVAHFAGIAREESGMA	512
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L483F	c.1447C>T	Putative Benign			SIFT: Polyphen: