Paralogue Annotation for RYR2 residue 3633

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3633
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3633

No paralogue variants have been mapped to residue 3633 for RYR2.

RYR2	FRMAPLYNLPRHRAVNLFLQGYEKSWIETE>E<HYFEDKLIEDLAKPG-AEPPEEDEGTKRVD	3662
RYR1	FRMTPLYNLPTHRACNMFLESYKAAWILTE>D<HSFEDRMIDDLSKAGEQEEEEEEVEEKKPD	3696
RYR3	FRMAPLYNLPRHRSINLFLHGYQRFWIETE>E<YSFEEKLVQDLAKSPKVEEEEEEETEKQPD	3551
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3633K	c.10897G>A	Putative Benign			SIFT: Polyphen: