Paralogue Annotation for RYR2 residue 1581

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1581
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1581

No paralogue variants have been mapped to residue 1581 for RYR2.

RYR2	NVFQFELGRIKNVMPLSAGLFKSEHKNPVP>Q<CPPRLHVQFLSHVLWSRMPNQFLKVDVSRI	1611
RYR1	NVIQFELGKQKNIMPLSAAMFQSERKNPAP>Q<CPPRLEMQMLMPVSWSRMPNHFLQVETRRA	1619
RYR3	SLFQFELGKLKNAMPLSAAIFRSEEKNPVP>Q<CPPRLDVQTIQPVLWSRMPNSFLKVETERV	1515
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1581P	c.4742A>C	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. Forensic Sci Int. 2015 254:5-11. doi: 10.1016/j.forsciint.2015.06.023. 26164358