Paralogue Annotation for RYR2 residue 521

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 521
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 521

No paralogue variants have been mapped to residue 521 for RYR2.

RYR2	EEGMINLVLECIDRLHVYSSAAHFADVAGR>E<AGESWKSILNSLYELLAALIRGNRKNCAQF	551
RYR1	EEGMLSMVLNCIDRLNVYTTAAHFAEFAGE>E<AAESWKEIVNLLYELLASLIRGNRSNCALF	539
RYR3	EEGMLALVLNCIDRLNVYNSVAHFAGIARE>E<SGMAWKEILNLLYKLLAALIRGNRNNCAQF	538
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E521K	c.1561G>A	Putative Benign			SIFT: Polyphen: