Paralogue Annotation for RYR2 residue 1046

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1046
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1046

No paralogue variants have been mapped to residue 1046 for RYR2.

RYR2	WTYGIQQDVKNRRNPRLVPYTLLDDRTKKS>N<KDSLREAVRTLLGYGYNLEAPDQDHAARAE	1076
RYR1	WSYSAVQDIPARRNPRLVPYRLLDEATKRS>N<RDSLCQAVRTLLGYGYNIEPPDQEP-SQVE	1063
RYR3	WTYGIQQDLKNKRNPRLVPYALLDERTKKS>N<RDSLREAVRTFVGYGYNIEPSDQEL-ADSA	1062
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1046S	c.3137A>G	Putative Benign			SIFT: Polyphen: