Paralogue Annotation for RYR2 residue 1043

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1043
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1043

No paralogue variants have been mapped to residue 1043 for RYR2.

RYR2	RQGWTYGIQQDVKNRRNPRLVPYTLLDDRT>K<KSNKDSLREAVRTLLGYGYNLEAPDQDHAA	1073
RYR1	GQGWSYSAVQDIPARRNPRLVPYRLLDEAT>K<RSNRDSLCQAVRTLLGYGYNIEPPDQEP-S	1060
RYR3	KQGWTYGIQQDLKNKRNPRLVPYALLDERT>K<KSNRDSLREAVRTFVGYGYNIEPSDQEL-A	1059
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Lys1043Arg	c.3128A>G	Unknown			SIFT: Polyphen: