Paralogue Annotation for RYR1 residue 2666

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2666
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2666

No paralogue variants have been mapped to residue 2666 for RYR1.

RYR1	FAKMPLKLLTNHYERCWKYYCLPTGWANFG>V<TSEEELHLTRKLFWGIFDSLAHKKYDPELY	2696
RYR2	HAKMPLKLLTNHYERCWKYYCLPGGWGNFG>A<ASEEELHLSRKLFWGIFDALSQKKYEQELF	2662
RYR3	YCKMPLKLLTNHYEQCWKYYCLPSGWGSYG>L<AVEEELHLTEKLFWGIFDSLSHKKYDPDLF	2559
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2666I	c.7996G>A	Putative Benign			SIFT: Polyphen: