Paralogue Annotation for RYR2 residue 2018

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2018
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2018

No paralogue variants have been mapped to residue 2018 for RYR2.

RYR2	PEEIRDQLLDFHEDLMTHCGIELDEDG-SL>D<GNSDLTIRGRLLSLVEKVTYLKKKQA--EK	2046
RYR1	PEEIRQDLLDFHQDLLAHCGIQLDGEEEEP>-<-EEETTLGSRLMSLLEKVRLVKKKEEKPEE	2082
RYR3	PEEIREELYDFHEDLLLHCGVPLEEEE-EE>-<-EEDTSWTGKLCALVYKIKGPPKPEK--EQ	1944
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2018N	c.6052G>A	Putative Benign			SIFT: Polyphen: