Paralogue Annotation for RYR1 residue 883

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 883
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 883

No paralogue variants have been mapped to residue 883 for RYR1.

RYR1	CPVDTVQIVLPPHLERIREKLAENIHELWA>L<TRIEQGWTYGPVRDDNKRLHPCLVDFHSLP	913
RYR2	IPVDTSQIVLPPHLERIREKLAENIHELWV>M<NKIELGWQYGPVRDDNKRQHPCLVEFSKLP	925
RYR3	CPVDTSQVILPPHLEKIRDRLAENIHELWG>M<NKIELGWTFGKIRDDNKRQHPCLVEFSKLP	912
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L883Q	c.2648T>A	Putative Benign		rs369665716	SIFT: deleterious Polyphen: probably damaging