Paralogue Annotation for RYR2 residue 73

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 73
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 73

No paralogue variants have been mapped to residue 73 for RYR2.

RYR2	GNRLCFLESTSNSKNVPPDLSICTFVLEQS>L<SVRALQEMLANTVEKSEGQVDVEKWKFMMK	103
RYR1	GNRLCFLEPTSNAQNVPPDLAICCFVLEQS>L<SVRALQEMLANTVEAG--V---E-------	90
RYR3	GNRLCFLEPTSEAKYIPPDLCVCNFVLEQS>L<SVRALQEMLANTGENG-GE---G-------	93
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L73V	c.217C>G	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171
p.Leu73Arg	c.218T>G	Unknown			SIFT: Polyphen: