Paralogue Annotation for RYR2 residue 535

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 535
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 535

No paralogue variants have been mapped to residue 535 for RYR2.

RYR2	LHVYSSAAHFADVAGREAGESWKSILNSLY>E<LLAALIRGNRKNCAQFSGSLDWLISRLERL	565
RYR1	LNVYTTAAHFAEFAGEEAAESWKEIVNLLY>E<LLASLIRGNRSNCALFSTNLDWLVSKLDRL	553
RYR3	LNVYNSVAHFAGIAREESGMAWKEILNLLY>K<LLAALIRGNRNNCAQFSNNLDWLISKLDRL	552
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Glu535Gly	c.1604A>G	Unknown			SIFT: Polyphen: