Paralogue Annotation for RYR1 residue 294

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 294
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 294

No paralogue variants have been mapped to residue 294 for RYR1.

RYR1	LRISWSGSHLRWGQPLRVRHVTTGQYLALT>E<DQGLVVVDASKAHTKATSFCFRI---SKEK	321
RYR2	LRVAWSGSHIRWGQPFRLRHVTTGKYLSLM>E<DKNLLLMDKEKADVKSTAFTFRS---SKEK	337
RYR3	LRISWSGSNIRWGQAFRLRHLTTGHYLALT>E<DQGLILQDRAKSDTKSTAFSFRASKELKEK	329
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E294K	c.880G>A	Putative Benign			SIFT: Polyphen: