Paralogue Annotation for RYR1 residue 2615

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2615
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2615

No paralogue variants have been mapped to residue 2615 for RYR1.

RYR1	TVYRLSRGRSLTKAQRDVIEDCLMSLCRYI>R<PSMLQHLLRRLVFDVPILNEFAKMPLKLLT	2645
RYR2	TVYRLSKGCSLTKAQRDSIEVCLLSICGQL>R<PSMMQHLLRRLVFDVPLLNEHAKMPLKLLT	2611
RYR3	TIYRLSKGRSLTKAQRDTIEECLLAICNHL>R<PSMLQQLLRRLVFDVPQLNEYCKMPLKLLT	2508
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2615H	c.7844G>A	Putative Benign		rs145183043	SIFT: Polyphen: benign
p.R2615C	c.7843C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases. Pediatr Neurol. 2014 51(2):275-8. doi: 10.1016/j.pediatrneurol.2014.04. 24950660