Paralogue Annotation for RYR2 residue 1246

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1246
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1246

No paralogue variants have been mapped to residue 1246 for RYR2.

RYR2	NFGKDVSTLKYFTICGLQEGYEPFAVNTNR>D<ITMWLSKRLPQFLQVPSNHEHIEVTRIDGT	1276
RYR1	NLGQDVSSLRFFAICGLQEGFEPFAINMQR>P<VTTWFSKGLPQFEPVPLEHPHYEVSRVDGT	1262
RYR3	NLGTDASTFKFYTMCGLQEGFEPFAVNMNR>D<VAMWFSKRLPTFVNVPKDHPHIEVMRIDGT	1262
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1246E	c.3738T>A	Putative Benign			SIFT: Polyphen: