Paralogue Annotation for RYR2 residue 3765

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3765
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3765

No paralogue variants have been mapped to residue 3765 for RYR2.

RYR2	GAAEMVLQTISASKGETGPMVAATLKLGIA>I<LNGGNSTVQQKMLDYLKEKKDVGFFQSLAG	3795
RYR1	GAAEMVLQMISACKGETGAMVSSTLKLGIS>I<LNGGNAEVQQKMLDYLKDKKEVGFFQSIQA	3833
RYR3	GAAEMVLQMISASKGEMSPMVVETLKLGIA>I<LNGGNAGVQQKMLDYLKEKKDAGFFQSLSG	3685
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3765V	c.11293A>G	Putative Benign			SIFT: Polyphen: