Paralogue Annotation for RYR2 residue 1170

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1170
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1170

No paralogue variants have been mapped to residue 1170 for RYR2.

RYR2	FKAQRWHQGNEHYGRSWQAGDVVGCMVDMN>E<HTMMFTLNGEILLDDSGSELAFKDFDVGDG	1200
RYR1	HRGQRWHLGSEPFGRPWQPGDVVGCMIDLT>E<NTIIFTLNGEVLMSDSGSETAFREIEIGDG	1186
RYR3	NRGQRWHQGSGYFGRTWQPGDVVGCMINLD>D<ASMIFTLNGELLITNKGSELAFADYEIENG	1186
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1170K	c.3508G>A	Putative Benign			SIFT: Polyphen: