Paralogue Annotation for RYR1 residue 2060

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2060
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2060

No paralogue variants have been mapped to residue 2060 for RYR1.

RYR1	LDFHQDLLAHCGIQLDGEEEEP--EEETTL>G<SRLMSLLEKVRLVKKKEEKPEEERSAEESK	2090
RYR2	LDFHEDLMTHCGIELDEDG-SLDGNSDLTI>R<GRLLSLVEKVTYLKKKQA--EKPVESDSKK	2054
RYR3	YDFHEDLLLHCGVPLEEEE-EE--EEDTSW>T<GKLCALVYKIKGPPKPEK--EQPTEEEERC	1952
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2060C	c.6178G>T	Benign		rs35364374	SIFT: Polyphen: benign