Paralogue Annotation for RYR1 residue 2018

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2018
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2018

No paralogue variants have been mapped to residue 2018 for RYR1.

RYR1	AAETARRTREFRSPPQEQINMLLQFKDGTD>E<EDCPLPEEIRQDLLDFHQDLLAHCGIQLDG	2048
RYR2	AALTARKTKEFRSPPQEQINMLLNFKD--D>K<SECPCPEEIRDQLLDFHEDLMTHCGIELDE	2013
RYR3	AALTARKTKEFRSPPQEQINMLLNFQL--G>E<-NCPCPEEIREELYDFHEDLLLHCGVPLEE	1913
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Glu2018Gln	c.6052G>C	Unknown			SIFT: Polyphen: