Paralogue Annotation for RYR1 residue 870

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 870
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 870

No paralogue variants have been mapped to residue 870 for RYR1.

RYR1	GPSRCLSHTDFVPCPVDTVQIVLPPHLERI>R<EKLAENIHELWALTRIEQGWTYGPVRDDNK	900
RYR2	GPTVSLTQAAFTPIPVDTSQIVLPPHLERI>R<EKLAENIHELWVMNKIELGWQYGPVRDDNK	912
RYR3	GTTQFLSQASFIPCPVDTSQVILPPHLEKI>R<DRLAENIHELWGMNKIELGWTFGKIRDDNK	899
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R870W	c.2608C>T	Putative Benign			SIFT: Polyphen:
p.R870Q	c.2609G>A	Putative Benign			SIFT: Polyphen: