Paralogue Annotation for RYR2 residue 2657

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2657
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2657

No paralogue variants have been mapped to residue 2657 for RYR2.

RYR2	WGNFGAASEEELHLSRKLFWGIFDALSQKK>Y<EQELFKLALPCLSAVAGALPPDYMESNYVS	2687
RYR1	WANFGVTSEEELHLTRKLFWGIFDSLAHKK>Y<DPELYRMAMPCLCAIAGALPPDYVDASYSS	2721
RYR3	WGSYGLAVEEELHLTEKLFWGIFDSLSHKK>Y<DPDLFRMALPCLSAIAGALPPDYLDTRITA	2584
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2657D	c.7969T>G	Putative Benign		rs376527336	SIFT: deleterious Polyphen: probably damaging