Paralogue Annotation for RYR2 residue 1076

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1076
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1076

No paralogue variants have been mapped to residue 1076 for RYR2.

RYR2	NKDSLREAVRTLLGYGYNLEAPDQDHAARA>E<VCSGTGERFRIFRAEKTYAVKAGRWYFEFE	1106
RYR1	NRDSLCQAVRTLLGYGYNIEPPDQEP-SQV>E<N-QSRCDRVRIFRAEKSYTVQSGRWYFEFE	1092
RYR3	NRDSLREAVRTFVGYGYNIEPSDQEL-ADS>A<VEKVSIDKIRFFRVERSYAVRSGKWYFEFE	1092
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1076K	c.3226G>A	Putative Benign			SIFT: Polyphen: