Paralogue Annotation for RYR1 residue 2062

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2062
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2062

No paralogue variants have been mapped to residue 2062 for RYR1.

RYR1	FHQDLLAHCGIQLDGEEEEP--EEETTLGS>R<LMSLLEKVRLVKKKEEKPEEERSAEESKPR	2092
RYR2	FHEDLMTHCGIELDEDG-SLDGNSDLTIRG>R<LLSLVEKVTYLKKKQA--EKPVESDSKKSS	2056
RYR3	FHEDLLLHCGVPLEEEE-EE--EEDTSWTG>K<LCALVYKIKGPPKPEK--EQPTEEEERCPT	1954
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2062H	c.6185G>A	Putative Benign		rs368235923	SIFT: deleterious Polyphen: possibly damaging
p.R2062C	c.6184C>T	Putative Benign			SIFT: Polyphen: