Paralogue Annotation for RYR2 residue 3454

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3454
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3454

No paralogue variants have been mapped to residue 3454 for RYR2.

RYR2	SFLITDTKSKMSKAA-----VSDQERKKMK>R<KGDRYSMQTSLIVAALKRLLPIGLNICAPG	3484
RYR1	SFLTADNKSKMAKAGDIQSGGSDQERTKKK>R<RGDRYSVQTSLIVATLKKMLPIGLNMCAPT	3528
RYR3	AFLTGDSKSKMSKAMQVKSGGQDQERKKTK>R<RGDLYSIQTSLIVAALKKMLPIGLNMCTPG	3385
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3454C	c.10360C>T	Putative Benign			SIFT: Polyphen: