Paralogue Annotation for RYR2 residue 2646

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2646
Reference Amino Acid: W - Tryptophan
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2646

No paralogue variants have been mapped to residue 2646 for RYR2.

RYR2	RCWKYYCLPGGWGNFGAASEEELHLSRKLF>W<GIFDALSQKKYEQELFKLALPCLSAVAGAL	2676
RYR1	RCWKYYCLPTGWANFGVTSEEELHLTRKLF>W<GIFDSLAHKKYDPELYRMAMPCLCAIAGAL	2710
RYR3	QCWKYYCLPSGWGSYGLAVEEELHLTEKLF>W<GIFDSLSHKKYDPDLFRMALPCLSAIAGAL	2573
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W2646R	c.7936T>A	Putative Benign			SIFT: Polyphen: