Paralogue Annotation for RYR2 residue 2824

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2824
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2824

No paralogue variants have been mapped to residue 2824 for RYR2.

RYR2	DSMALYNRTRRISQTSQV--SVDAAHGYSP>R<AIDMSNVTLSRDLHAMAEMMAENYHNIWAK	2854
RYR1	EEEK--TEKKKTRKISQSAQTYDPREGYNP>Q<PPDLSAVTLSRELQAMAEQLAENYHNTWGR	2888
RYR3	EALVQQRENEKLRSVSQA--NQ--GNSYSP>A<PLDLSNVVLSRELQGMVEVVAENYHNIWAK	2749
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2824W	c.8470C>T	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555