Paralogue Annotation for RYR1 residue 2439

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2439
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2439

No paralogue variants have been mapped to residue 2439 for RYR1.

RYR1	EPPEENRVHLGHAIMSFYAALIDLLGRCAP>E<MHLIQAGKGEALRIRAILRSLVPLEDLVGI	2469
RYR2	EEEEDDTIHMGNAIMTFYSALIDLLGRCAP>E<MHLIHAGKGEAIRIRSILRSLIPLGDLVGV	2435
RYR3	DEEEEEIVHMGNAIMSFYSALIDLLGRCAP>E<MHLIQTGKGEAIRIRSILRSLVPTEDLVGI	2332
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2439D	c.7317G>C	Other Myopathy		rs193922813	SIFT: Polyphen:
Reports		Other Myopathy		Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904