Paralogue Annotation for RYR2 residue 527

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 527
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 527

No paralogue variants have been mapped to residue 527 for RYR2.

RYR2	LVLECIDRLHVYSSAAHFADVAGREAGESW>K<SILNSLYELLAALIRGNRKNCAQFSGSLDW	557
RYR1	MVLNCIDRLNVYTTAAHFAEFAGEEAAESW>K<EIVNLLYELLASLIRGNRSNCALFSTNLDW	545
RYR3	LVLNCIDRLNVYNSVAHFAGIAREESGMAW>K<EILNLLYKLLAALIRGNRNNCAQFSNNLDW	544
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K527R	c.1580A>G	Putative Benign			SIFT: Polyphen: