Paralogue Annotation for RYR2 residue 4011

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4011
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4011

No paralogue variants have been mapped to residue 4011 for RYR2.

RYR2	MLLSMLEGNVVNGTIGKQMVDMLVESSNNV>E<MILKFFDMFLKLKDLTSSDTFKEYDPDGKG	4041
RYR1	MLLSLLEGNVVNGMIARQMVDMLVESSSNV>E<MILKFFDMFLKLKDIVGSEAFQDYVTDPRG	4085
RYR3	MLLSLLEGNVVNGTIGKQMVDTLVESSTNV>E<MILKFFDMFLKLKDLTSSDTFKEYDPDGKG	3937
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4011Q	c.12031G>C	Putative Benign			SIFT: Polyphen: