Paralogue Annotation for RYR2 residue 1150

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1150
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1150

No paralogue variants have been mapped to residue 1150 for RYR2.

RYR2	PGCQPDQELGSDERAFAFDGFKAQRWHQGN>E<HYGRSWQAGDVVGCMVDMNEHTMMFTLNGE	1180
RYR1	PELRPDVELGADELAYVFNGHRGQRWHLGS>E<PFGRPWQPGDVVGCMIDLTENTIIFTLNGE	1166
RYR3	PGCRPDVELGADDQAFVFEGNRGQRWHQGS>G<YFGRTWQPGDVVGCMINLDDASMIFTLNGE	1166
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1150G	c.3449A>G	Putative Benign			SIFT: Polyphen: