Paralogue Annotation for RYR2 residue 529

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 529
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 529

No paralogue variants have been mapped to residue 529 for RYR2.

RYR2	LECIDRLHVYSSAAHFADVAGREAGESWKS>I<LNSLYELLAALIRGNRKNCAQFSGSLDWLI	559
RYR1	LNCIDRLNVYTTAAHFAEFAGEEAAESWKE>I<VNLLYELLASLIRGNRSNCALFSTNLDWLV	547
RYR3	LNCIDRLNVYNSVAHFAGIAREESGMAWKE>I<LNLLYKLLAALIRGNRNNCAQFSNNLDWLI	546
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I529T	c.1586T>C	Putative Benign			SIFT: Polyphen: