Paralogue Annotation for RYR1 residue 3271

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3271
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3271

No paralogue variants have been mapped to residue 3271 for RYR1.

RYR1	PDIPVLERLMADIGGLAESGARYTEMPHVI>E<ITLPMLCSYLPRWWERGPEAPPSALPAGAP	3301
RYR2	PNIPSLEKLMEEIVELAESGIRYTQMPHVM>E<VILPMLCSYMSRWWEHGPENNPE----RAE	3262
RYR3	PDIPQLEGLMKEINDLAESGARYTEMPHVI>E<VILPMLCNYLSYWWERGPENLPP----STG	3158
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3271K	c.9811G>A	Other Myopathy			SIFT: Polyphen:
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