Paralogue Annotation for RYR2 residue 613

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 613
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 613

No paralogue variants have been mapped to residue 613 for RYR2.

RYR2	PEALNIIKEGHIKSIISLLDKHGRNHKVLD>V<LCSLCVCHGVAVRSNQHLICDNLLPGRDLL	643
RYR1	PEVLNIIQENHIKSIISLLDKHGRNHKVLD>V<LCSLCVCNGVAVRSNQDLITENLLPGRELL	631
RYR3	PEALNLIAEGHIKSIISLLDKHGRNHKVLD>I<LCSLCLCNGVAVRANQNLICDNLLPRRNLL	630
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V613I	c.1837G>A	Putative Benign			SIFT: Polyphen: