Paralogue Annotation for RYR2 residue 80

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 80
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 80

No paralogue variants have been mapped to residue 80 for RYR2.

RYR2	ESTSNSKNVPPDLSICTFVLEQSLSVRALQ>E<MLANTVEKSEGQVDVEKWKFMMKTAQGGGH	110
RYR1	EPTSNAQNVPPDLAICCFVLEQSLSVRALQ>E<MLANTVEAG--V---E-------SSQGGGH	97
RYR3	EPTSEAKYIPPDLCVCNFVLEQSLSVRALQ>E<MLANTGENG-GE---G-------AAQGGGH	100
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Glu80Gly	c.239A>G	Unknown			SIFT: Polyphen: