Paralogue Annotation for RYR2 residue 3654

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3654
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3654

No paralogue variants have been mapped to residue 3654 for RYR2.

RYR2	EKSWIETEEHYFEDKLIEDLAKPG-AEPPE>E<DEGTKRVDPLHQLILLFSRTALTEKCKLEE	3684
RYR1	KAAWILTEDHSFEDRMIDDLSKAGEQEEEE>E<EVEEKKPDPLHQLVLHFSRTALTEKSKLDE	3718
RYR3	QRFWIETEEYSFEEKLVQDLAKSPKVEEEE>E<EETEKQPDPLHQIILYFSRNALTERSKLED	3573
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3654D	c.10962A>C	Putative Benign			SIFT: tolerated Polyphen: benign