Paralogue Annotation for RYR2 residue 2643

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2643
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2643

No paralogue variants have been mapped to residue 2643 for RYR2.

RYR2	HYERCWKYYCLPGGWGNFGAASEEELHLSR>K<LFWGIFDALSQKKYEQELFKLALPCLSAVA	2673
RYR1	HYERCWKYYCLPTGWANFGVTSEEELHLTR>K<LFWGIFDSLAHKKYDPELYRMAMPCLCAIA	2707
RYR3	HYEQCWKYYCLPSGWGSYGLAVEEELHLTE>K<LFWGIFDSLSHKKYDPDLFRMALPCLSAIA	2570
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2643N	c.7929G>C	Putative Benign			SIFT: Polyphen: