Paralogue Annotation for RYR2 residue 1254

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1254
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1254

No paralogue variants have been mapped to residue 1254 for RYR2.

RYR2	LKYFTICGLQEGYEPFAVNTNRDITMWLSK>R<LPQFLQVPSNHEHIEVTRIDGTIDSSPCLK	1284
RYR1	LRFFAICGLQEGFEPFAINMQRPVTTWFSK>G<LPQFEPVPLEHPHYEVSRVDGTVDTPPCLR	1270
RYR3	FKFYTMCGLQEGFEPFAVNMNRDVAMWFSK>R<LPTFVNVPKDHPHIEVMRIDGTMDSPPCLK	1270
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1254G	c.3760A>G	Putative Benign			SIFT: Polyphen: