Paralogue Annotation for RYR2 residue 1039

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1039
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1039

No paralogue variants have been mapped to residue 1039 for RYR2.

RYR2	RDRIRQGWTYGIQQDVKNRRNPRLVPYTLL>D<DRTKKSNKDSLREAVRTLLGYGYNLEAPDQ	1069
RYR1	RDRVGQGWSYSAVQDIPARRNPRLVPYRLL>D<EATKRSNRDSLCQAVRTLLGYGYNIEPPDQ	1057
RYR3	KDRIKQGWTYGIQQDLKNKRNPRLVPYALL>D<ERTKKSNRDSLREAVRTFVGYGYNIEPSDQ	1056
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1039V	c.3116A>T	Putative Benign			SIFT: Polyphen: