Paralogue Annotation for RYR2 residue 68

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 68
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 68

No paralogue variants have been mapped to residue 68 for RYR2.

RYR2	AAEGFGNRLCFLESTSNSKNVPPDLSICTF>V<LEQSLSVRALQEMLANTVEKSEGQVDVEKW	98
RYR1	AAEGFGNRLCFLEPTSNAQNVPPDLAICCF>V<LEQSLSVRALQEMLANTVEAG--V---E--	90
RYR3	AAEGLGNRLCFLEPTSEAKYIPPDLCVCNF>V<LEQSLSVRALQEMLANTGENG-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.V68L	c.202G>C	Putative Benign			SIFT: Polyphen:
p.V68G	c.203T>G	Putative Benign			SIFT: Polyphen: