Paralogue Annotation for RYR2 residue 2439

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2439
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2439

No paralogue variants have been mapped to residue 2439 for RYR2.

RYR2	IHAGKGEAIRIRSILRSLIPLGDLVGVISI>A<FQMPTIAKDGNVVEPDMSAGFCPDHKAAMV	2469
RYR1	IQAGKGEALRIRAILRSLVPLEDLVGIISL>P<LQIPTLGKDGALVQPKMSASFVPDHKASMV	2503
RYR3	IQTGKGEAIRIRSILRSLVPTEDLVGIISI>P<LKLPSLNKDGSVSEPDMAANFCPDHKAPMV	2366
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2439T	c.7315G>A	Cardiomyopathy		rs367818536	SIFT: deleterious Polyphen: benign
Reports		Cardiomyopathy	nsCM	Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977
p.A2439G	c.7316C>G	Putative Benign		rs371753590	SIFT: deleterious Polyphen: benign