Paralogue Annotation for RYR2 residue 4301

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4301
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4301

No paralogue variants have been mapped to residue 4301 for RYR2.

RYR2	VKKMTVKDMVTAFFSSYWSIFMTLLHFVAS>V<FRGFFRIICSLLLGGSLVEGAKKIKVAELL	4331
RYR1	LRRLTAREAATAVAALLWAAVTRAGAAGAG>A<AAGALGLLWGSLFGGGLVEGAKKVTVTELL	4380
RYR3	VKKMTAKELVKVLFSFFWMLFVGLFQLLFT>I<LGGIFQILWSTVFGGGLVEGAKNIRVTKIL	4232
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4301L	c.12901G>C	Putative Benign			SIFT: Polyphen: