Paralogue Annotation for RYR2 residue 683

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 683
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 683

No paralogue variants have been mapped to residue 683 for RYR2.

RYR2	SSMRPNIFLGVSEGSAQYKKWYYELMVDHT>E<PFVTAEATHLRVGWASTEGYSPYPGGGEEW	713
RYR1	TSIRPNIFVGRAEGTTQYSKWYFEVMVDEV>T<PFLTAQATHLRVGWALTEGYTPYPGAGEGW	701
RYR3	TSIRPNIFLGVAEGSAQYKKWYFELIIDQV>D<PFLTAEPTHLRVGWASSSGYAPYPGGGEGW	700
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E683A	c.2048A>C	Putative Benign			SIFT: Polyphen: