Paralogue Annotation for RYR2 residue 1277

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1277
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1277

No paralogue variants have been mapped to residue 1277 for RYR2.

RYR2	ITMWLSKRLPQFLQVPSNHEHIEVTRIDGT>I<DSSPCLKVTQKSFGSQNSNTDIMFYRLSMP	1307
RYR1	VTTWFSKGLPQFEPVPLEHPHYEVSRVDGT>V<DTPPCLRLTHRTWGSQNSLVEMLFLRLSLP	1293
RYR3	VAMWFSKRLPTFVNVPKDHPHIEVMRIDGT>M<DSPPCLKVTHKTFGTQNSNADMIYCRLSMP	1293
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1277V	c.3829A>G	Putative Benign			SIFT: Polyphen: