Paralogue Annotation for RYR1 residue 2677

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2677
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2677

No paralogue variants have been mapped to residue 2677 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2677N	c.8031A>T	Putative Benign			SIFT: Polyphen: