Paralogue Annotation for RYR2 residue 1162

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1162
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1162

No paralogue variants have been mapped to residue 1162 for RYR2.

RYR2	ERAFAFDGFKAQRWHQGNEHYGRSWQAGDV>V<GCMVDMNEHTMMFTLNGEILLDDSGSELAF	1192
RYR1	ELAYVFNGHRGQRWHLGSEPFGRPWQPGDV>V<GCMIDLTENTIIFTLNGEVLMSDSGSETAF	1178
RYR3	DQAFVFEGNRGQRWHQGSGYFGRTWQPGDV>V<GCMINLDDASMIFTLNGELLITNKGSELAF	1178
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1162M	c.3484G>A	Putative Benign		rs377030538	SIFT: deleterious Polyphen: benign