Paralogue Annotation for RYR2 residue 1037

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1037
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1037

No paralogue variants have been mapped to residue 1037 for RYR2.

RYR2	WARDRIRQGWTYGIQQDVKNRRNPRLVPYT>L<LDDRTKKSNKDSLREAVRTLLGYGYNLEAP	1067
RYR1	WARDRVGQGWSYSAVQDIPARRNPRLVPYR>L<LDEATKRSNRDSLCQAVRTLLGYGYNIEPP	1055
RYR3	WAKDRIKQGWTYGIQQDLKNKRNPRLVPYA>L<LDERTKKSNRDSLREAVRTFVGYGYNIEPS	1054
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1037V	c.3109C>G	Putative Benign			SIFT: Polyphen: