Paralogue Annotation for RYR1 residue 2829

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2829
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2829

No paralogue variants have been mapped to residue 2829 for RYR1.

RYR1	EKDKEIYRWPIKESLKAMIAWEWTIEKARE>G<EEEK--TEKKKTRKISQSAQTYDPREGYNP	2857
RYR2	EKEKEIYRWPIKESLKTMLAWGWRIERTRE>G<DSMALYNRTRRISQTSQV--SVDAAHGYSP	2823
RYR3	EKEKEIYRWPARESLKTMLAVGWTVERTKE>G<EALVQQRENEKLRSVSQA--NQ--GNSYSP	2718
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2829C	c.8485G>T	Putative Benign			SIFT: Polyphen: