Paralogue Annotation for RYR2 residue 680

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 680
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 680

No paralogue variants have been mapped to residue 680 for RYR2.

RYR2	NHVSSMRPNIFLGVSEGSAQYKKWYYELMV>D<HTEPFVTAEATHLRVGWASTEGYSPYPGGG	710
RYR1	NYVTSIRPNIFVGRAEGTTQYSKWYFEVMV>D<EVTPFLTAQATHLRVGWALTEGYTPYPGAG	698
RYR3	NDVTSIRPNIFLGVAEGSAQYKKWYFELII>D<QVDPFLTAEPTHLRVGWASSSGYAPYPGGG	697
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D680G	c.2039A>G	Putative Benign			SIFT: Polyphen:
p.Asp680Asn	c.2038G>A	Unknown			SIFT: Polyphen: