Paralogue Annotation for RYR1 residue 2987

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2987
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2987

No paralogue variants have been mapped to residue 2987 for RYR1.

RYR1	FGFLQQLLRWMDISQEFIAHLEAVVSSGRV>E<KSPHEQEIKFFAKILLPLINQYFTNHCLYF	3017
RYR2	YSFLQQLIRYVDEAHQYILEFDGG-SRGKG>E<HFPYEQEIKFFAKVVLPLIDQYFKNHRLYF	2982
RYR3	YKFLKKILKYVDSAQEFIAHLEAIVSSGKT>E<KSPRDQEIKFFAKVLLPLVDQYFTSHCLYF	2878
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2987Q	c.8959G>C	Putative Benign		rs368065870	SIFT: tolerated Polyphen: benign
p.E2987G	c.8960A>G	Putative Benign		rs370979167	SIFT: tolerated Polyphen: benign