Paralogue Annotation for RYR1 residue 2693

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2693
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2693

No paralogue variants have been mapped to residue 2693 for RYR1.

RYR1	NFGVTSEEELHLTRKLFWGIFDSLAHKKYD>P<ELYRMAMPCLCAIAGALPPDYVDASYSSKA	2723
RYR2	NFGAASEEELHLSRKLFWGIFDALSQKKYE>Q<ELFKLALPCLSAVAGALPPDYMESNYVSMM	2689
RYR3	SYGLAVEEELHLTEKLFWGIFDSLSHKKYD>P<DLFRMALPCLSAIAGALPPDYLDTRITATL	2586
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2693L	c.8078C>T	Putative Benign			SIFT: deleterious Polyphen: benign