Paralogue Annotation for RYR2 residue 1091

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1091
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1091

No paralogue variants have been mapped to residue 1091 for RYR2.

RYR2	GYNLEAPDQDHAARAEVCSGTGERFRIFRA>E<KTYAVKAGRWYFEFETVTAGDMRVGWSRPG	1121
RYR1	GYNIEPPDQEP-SQVEN-QSRCDRVRIFRA>E<KSYTVQSGRWYFEFEAVTTGEMRVGWARPE	1107
RYR3	GYNIEPSDQEL-ADSAVEKVSIDKIRFFRV>E<RSYAVRSGKWYFEFEVVTGGDMRVGWARPG	1107
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1091K	c.3271G>A	Putative Benign			SIFT: deleterious Polyphen: possibly damaging