Paralogue Annotation for RYR1 residue 2692

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2692
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2692

No paralogue variants have been mapped to residue 2692 for RYR1.

RYR1	ANFGVTSEEELHLTRKLFWGIFDSLAHKKY>D<PELYRMAMPCLCAIAGALPPDYVDASYSSK	2722
RYR2	GNFGAASEEELHLSRKLFWGIFDALSQKKY>E<QELFKLALPCLSAVAGALPPDYMESNYVSM	2688
RYR3	GSYGLAVEEELHLTEKLFWGIFDSLSHKKY>D<PDLFRMALPCLSAIAGALPPDYLDTRITAT	2585
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2692N	c.8074G>A	Putative Benign		rs201847439	SIFT: Polyphen: benign
p.D2692V	c.8075A>T	Putative Benign			SIFT: Polyphen: