Paralogue Annotation for RYR2 residue 1241

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1241
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1241

No paralogue variants have been mapped to residue 1241 for RYR2.

RYR2	QVGRMNFGKDVSTLKYFTICGLQEGYEPFA>V<NTNRDITMWLSKRLPQFLQVPSNHEHIEVT	1271
RYR1	QVGHLNLGQDVSSLRFFAICGLQEGFEPFA>I<NMQRPVTTWFSKGLPQFEPVPLEHPHYEVS	1257
RYR3	QIGRMNLGTDASTFKFYTMCGLQEGFEPFA>V<NMNRDVAMWFSKRLPTFVNVPKDHPHIEVM	1257
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1241I	c.3721G>A	Putative Benign		rs185715460	SIFT: tolerated Polyphen: benign