Paralogue Annotation for RYR1 residue 42

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 42
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 42

No paralogue variants have been mapped to residue 42 for RYR1.

RYR1	FLRTDDEVVLQCSATVLKEQLKLCLAAEGF>G<NRLCFLEPTSNAQNVPPDLAICCFVLEQSL	72
RYR2	FLRTDDEVVLQCTATIHKEQQKLCLAAEGF>G<NRLCFLESTSNSKNVPPDLSICTFVLEQSL	73
RYR3	FLRTEDEVVLQCIATIHKEQRKFCLAAEGL>G<NRLCFLEPTSEAKYIPPDLCVCNFVLEQSL	74
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G42S	c.124G>A	Putative Benign			SIFT: Polyphen: