Paralogue Annotation for RYR1 residue 2450

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2450
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2450

No paralogue variants have been mapped to residue 2450 for RYR1.

RYR1	HAIMSFYAALIDLLGRCAPEMHLIQAGKGE>A<LRIRAILRSLVPLEDLVGIISLPLQIPTLG	2480
RYR2	NAIMTFYSALIDLLGRCAPEMHLIHAGKGE>A<IRIRSILRSLIPLGDLVGVISIAFQMPTIA	2446
RYR3	NAIMSFYSALIDLLGRCAPEMHLIQTGKGE>A<IRIRSILRSLVPTEDLVGIISIPLKLPSLN	2343
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2450V	c.7349C>T	Putative Benign		rs141959437	SIFT: Polyphen: benign