Paralogue Annotation for RYR1 residue 2697

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2697
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2697

No paralogue variants have been mapped to residue 2697 for RYR1.

RYR1	TSEEELHLTRKLFWGIFDSLAHKKYDPELY>R<MAMPCLCAIAGALPPDYVDASYSSKAEKKA	2727
RYR2	ASEEELHLSRKLFWGIFDALSQKKYEQELF>K<LALPCLSAVAGALPPDYMESNYVSMMEKQS	2693
RYR3	AVEEELHLTEKLFWGIFDSLSHKKYDPDLF>R<MALPCLSAIAGALPPDYLDTRITATLEKQI	2590
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2697C	c.8089C>T	Putative Benign			SIFT: Polyphen: