Paralogue Annotation for RYR2 residue 3581

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3581
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3581

No paralogue variants have been mapped to residue 3581 for RYR2.

RYR2	LDIANVLFHLEQKSKRVGRRHYCL-VEHPQ>R<SKKAVWHKLLSKQRKRAVVACFRMAPLYNL	3611
RYR1	-------------QEVSAVLYYLDQTEHPY>K<SKKAVWHKLLSKQRRRAVVACFRMTPLYNL	3644
RYR3	-------------QRISAAVFHLEQVEQPL>R<SKKAVWHKLLSKQRKRAVVACFRMAPLYNL	3499
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3581K	c.10742G>A	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet. 2016 24(6):817-22. doi: 10.1038/ejhg.2015.198. 26350513