Paralogue Annotation for RYR2 residue 2433

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2433
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2433

No paralogue variants have been mapped to residue 2433 for RYR2.

RYR2	APEMHLIHAGKGEAIRIRSILRSLIPLGDL>V<GVISIAFQMPTIAKDGNVVEPDMSAGFCPD	2463
RYR1	APEMHLIQAGKGEALRIRAILRSLVPLEDL>V<GIISLPLQIPTLGKDGALVQPKMSASFVPD	2497
RYR3	APEMHLIQTGKGEAIRIRSILRSLVPTEDL>V<GIISIPLKLPSLNKDGSVSEPDMAANFCPD	2360
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2433L	c.7297G>T	Putative Benign			SIFT: Polyphen: