Paralogue Annotation for RYR2 residue 565

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 565
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 565

No paralogue variants have been mapped to residue 565 for RYR2.

RYR2	ELLAALIRGNRKNCAQFSGSLDWLISRLER>L<EASSGILEVLHCVLVESPEALNIIKEGHIK	595
RYR1	ELLASLIRGNRSNCALFSTNLDWLVSKLDR>L<EASSGILEVLYCVLIESPEVLNIIQENHIK	583
RYR3	KLLAALIRGNRNNCAQFSNNLDWLISKLDR>L<ESSSGILEVLHCILTESPEALNLIAEGHIK	582
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L565V	c.1693C>G	Putative Benign			SIFT: Polyphen: