Paralogue Annotation for RYR2 residue 4631

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4631
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4631

No paralogue variants have been mapped to residue 4631 for RYR2.

RYR2	KREKEVARKLEFDGLYITEQPSEDDIKGQW>D<RLVINTQSFPNNYWDKFVKRKVMDKYGEFY	4661
RYR1	KREKELARKLEFDGLYITEQPEDDDVKGQW>D<RLVLNTPSFPSNYWDKFVKRKVLDKHGDIY	4733
RYR3	KREKEIARKLEFDGLYITEQPSEDDIKGQW>D<RLVINTPSFPNNYWDKFVKRKVINKYGDLY	4566
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4631V	c.13892A>T	Inherited Arrhythmia	CPVT		SIFT: Polyphen:
Reports		Inherited Arrhythmia	CPVT	RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. PLoS One. 2014 9(6):e101059. doi: 10.1371/journal.pone.0101059. e 24978818