Paralogue Annotation for RYR2 residue 2016

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2016
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2016

No paralogue variants have been mapped to residue 2016 for RYR2.

RYR2	PCPEEIRDQLLDFHEDLMTHCGIELDEDG->S<LDGNSDLTIRGRLLSLVEKVTYLKKKQA--	2044
RYR1	PLPEEIRQDLLDFHQDLLAHCGIQLDGEEE>E<P--EEETTLGSRLMSLLEKVRLVKKKEEKP	2080
RYR3	PCPEEIREELYDFHEDLLLHCGVPLEEEE->E<E--EEDTSWTGKLCALVYKIKGPPKPEK--	1942
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2016T	c.6046T>A	Putative Benign			SIFT: tolerated Polyphen: benign