Paralogue Annotation for RYR1 residue 4210

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4210
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4210

No paralogue variants have been mapped to residue 4210 for RYR1.

RYR1	IEIMGASRRIERIYFEISETNRAQWEMPQV>K<ESKRQFIFDVVNEGGEAEKMELFVSFCEDT	4240
RYR2	IEIMGSAKRIERVYFEISESSRTQWEKPQV>K<ESKRQFIFDVVNEGGEKEKMELFVNFCEDT	4196
RYR3	IEIMGGAKKIERVYFEISESSRTQWEKPQV>K<ESKRQFIFDVVNEGGEQEKMELFVNFCEDT	4092
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4210R	c.12629A>G	Other Myopathy		rs138932463	SIFT: Polyphen: benign
Reports		Other Myopathy		RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145