Paralogue Annotation for RYR2 residue 4634

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4634
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4634

No paralogue variants have been mapped to residue 4634 for RYR2.

RYR2	KEVARKLEFDGLYITEQPSEDDIKGQWDRL>V<INTQSFPNNYWDKFVKRKVMDKYGEFYGRD	4664
RYR1	KELARKLEFDGLYITEQPEDDDVKGQWDRL>V<LNTPSFPSNYWDKFVKRKVLDKHGDIYGRE	4736
RYR3	KEIARKLEFDGLYITEQPSEDDIKGQWDRL>V<INTPSFPNNYWDKFVKRKVINKYGDLYGAE	4569
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4634I	c.13900G>A	Putative Benign			SIFT: Polyphen: