Paralogue Annotation for RYR2 residue 1596

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1596
Reference Amino Acid: W - Tryptophan
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1596

No paralogue variants have been mapped to residue 1596 for RYR2.

RYR2	LSAGLFKSEHKNPVPQCPPRLHVQFLSHVL>W<SRMPNQFLKVDVSRISERQGWLVQCLDPLQ	1626
RYR1	LSAAMFQSERKNPAPQCPPRLEMQMLMPVS>W<SRMPNHFLQVETRRAGERLGWAVQCQEPLT	1634
RYR3	LSAAIFRSEEKNPVPQCPPRLDVQTIQPVL>W<SRMPNSFLKVETERVSERHGWVVQCLEPLQ	1530
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W1596R	c.4786T>A	Putative Benign			SIFT: Polyphen: