Paralogue Annotation for RYR2 residue 2987

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2987
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2987

No paralogue variants have been mapped to residue 2987 for RYR2.

RYR2	EQEIKFFAKVVLPLIDQYFKNHRLYFLSAA>S<RPLCSGGHASNKEKEMVTSLFCKLGVLVRH	3017
RYR1	EQEIKFFAKILLPLINQYFTNHCLYFLSTP>A<KVLGSGGHASNKEKEMITSLFCKLAALVRH	3052
RYR3	DQEIKFFAKVLLPLVDQYFTSHCLYFLSSP>L<KPLSSSGYASHKEKEMVAGLFCKLAALVRH	2913
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2987G	c.8959A>G	Putative Benign			SIFT: Polyphen: