Paralogue Annotation for RYR2 residue 2518

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2518
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2518

No paralogue variants have been mapped to residue 2518 for RYR2.

RYR2	LEVGFLPDLRAAASLDTAALSATDMALALN>R<YLCTAVLPLLTRCAPLFAGTEHHASLIDSL	2548
RYR1	LDVGFLPDMRAAASLDTATFSTTEMALALN>R<YLCLAVLPLITKCAPLFAGTEHRAIMVDSM	2582
RYR3	LEVGFLPDLRASASLDTVSLSTTEAALALN>R<YICSAVLPLLTRCAPLFAGTEHCTSLIDST	2445
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2518W	c.7552C>T	Putative Benign			SIFT: Polyphen: