Paralogue Annotation for RYR1 residue 2552

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2552
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2552

No paralogue variants have been mapped to residue 2552 for RYR1.

RYR1	LDVGFLPDMRAAASLDTATFSTTEMALALN>R<YLCLAVLPLITKCAPLFAGTEHRAIMVDSM	2582
RYR2	LEVGFLPDLRAAASLDTAALSATDMALALN>R<YLCTAVLPLLTRCAPLFAGTEHHASLIDSL	2548
RYR3	LEVGFLPDLRASASLDTVSLSTTEAALALN>R<YICSAVLPLLTRCAPLFAGTEHCTSLIDST	2445
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2552C	c.7654C>T	Putative Benign			SIFT: Polyphen: