Paralogue Annotation for RYR1 residue 2065

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2065
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2065

No paralogue variants have been mapped to residue 2065 for RYR1.

RYR1	DLLAHCGIQLDGEEEEP--EEETTLGSRLM>S<LLEKVRLVKKKEEKPEEERSAEESKPRSLQ	2095
RYR2	DLMTHCGIELDEDG-SLDGNSDLTIRGRLL>S<LVEKVTYLKKKQA--EKPVESDSKKSSTLQ	2059
RYR3	DLLLHCGVPLEEEE-EE--EEDTSWTGKLC>A<LVYKIKGPPKPEK--EQPTEEEERCPTTLK	1957
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2065N	c.6194G>A	Putative Benign			SIFT: Polyphen: