Paralogue Annotation for RYR1 residue 67

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 67
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 67

No paralogue variants have been mapped to residue 67 for RYR1.

RYR1	AAEGFGNRLCFLEPTSNAQNVPPDLAICCF>V<LEQSLSVRALQEMLANTVEAG--V---E--	90
RYR2	AAEGFGNRLCFLESTSNSKNVPPDLSICTF>V<LEQSLSVRALQEMLANTVEKSEGQVDVEKW	98
RYR3	AAEGLGNRLCFLEPTSEAKYIPPDLCVCNF>V<LEQSLSVRALQEMLANTGENG-GE---G--	93
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V67I	c.199G>A	Putative Benign			SIFT: Polyphen: