Paralogue Annotation for RYR2 residue 2836

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2836
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2836

No paralogue variants have been mapped to residue 2836 for RYR2.

RYR2	SQTSQV--SVDAAHGYSPRAIDMSNVTLSR>D<LHAMAEMMAENYHNIWAKKKKMELESKGGG	2866
RYR1	RKISQSAQTYDPREGYNPQPPDLSAVTLSR>E<LQAMAEQLAENYHNTWGRKKKQELEAKGGG	2900
RYR3	RSVSQA--NQ--GNSYSPAPLDLSNVVLSR>E<LQGMVEVVAENYHNIWAKKKKLELESKGGG	2761
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2836N	c.8506G>A	Putative Benign			SIFT: Polyphen:
p.D2836E	c.8508C>A	Putative Benign			SIFT: Polyphen: