Paralogue Annotation for RYR2 residue 3740

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3740
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3740

No paralogue variants have been mapped to residue 3740 for RYR2.

RYR2	-VKSFEEKEMEKQKLLYQQARLHDRGAAEM>V<LQTISASKGETGPMVAATLKLGIAILNGGN	3770
RYR1	VEVSFEEKQMEKQRLLYQQARLHTRGAAEM>V<LQMISACKGETGAMVSSTLKLGISILNGGN	3808
RYR3	KEKTFEEKEMEKQKTLYQQARLHERGAAEM>V<LQMISASKGEMSPMVVETLKLGIAILNGGN	3660
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3740L	c.11218G>T	Putative Benign			SIFT: deleterious Polyphen: possibly damaging