Paralogue Annotation for RYR2 residue 3648

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3648
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3648

No paralogue variants have been mapped to residue 3648 for RYR2.

RYR2	NLFLQGYEKSWIETEEHYFEDKLIEDLAKP>G<-AEPPEEDEGTKRVDPLHQLILLFSRTALT	3677
RYR1	NMFLESYKAAWILTEDHSFEDRMIDDLSKA>G<EQEEEEEEVEEKKPDPLHQLVLHFSRTALT	3711
RYR3	NLFLHGYQRFWIETEEYSFEEKLVQDLAKS>P<KVEEEEEEETEKQPDPLHQIILYFSRNALT	3566
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3648V	c.10943G>T	Putative Benign			SIFT: tolerated Polyphen: benign