Paralogue Annotation for RYR1 residue 3066

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3066
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3066

No paralogue variants have been mapped to residue 3066 for RYR1.

RYR1	KEMITSLFCKLAALVRHRVSLFGTDAPAVV>N<CLHILARSLDARTVMKSGPEIVKAGLRSFF	3096
RYR2	KEMVTSLFCKLGVLVRHRISLFGNDATSIV>N<CLHILGQTLDARTVMKTGLESVKSALRAFL	3061
RYR3	KEMVAGLFCKLAALVRHRISLFGSDSTTMV>S<CLHILAQTLDTRTVMKSGSELVKAGLRAFF	2957
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3066K	c.9198C>G	Putative Benign		rs201863144	SIFT: Polyphen: benign