Paralogue Annotation for RYR2 residue 1275

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1275
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1275

No paralogue variants have been mapped to residue 1275 for RYR2.

RYR2	RDITMWLSKRLPQFLQVPSNHEHIEVTRID>G<TIDSSPCLKVTQKSFGSQNSNTDIMFYRLS	1305
RYR1	RPVTTWFSKGLPQFEPVPLEHPHYEVSRVD>G<TVDTPPCLRLTHRTWGSQNSLVEMLFLRLS	1291
RYR3	RDVAMWFSKRLPTFVNVPKDHPHIEVMRID>G<TMDSPPCLKVTHKTFGTQNSNADMIYCRLS	1291
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1275S	c.3823G>A	Putative Benign			SIFT: Polyphen: