Paralogue Annotation for RYR1 residue 2440

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2440
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2440

No paralogue variants have been mapped to residue 2440 for RYR1.

RYR1	PPEENRVHLGHAIMSFYAALIDLLGRCAPE>M<HLIQAGKGEALRIRAILRSLVPLEDLVGII	2470
RYR2	EEEDDTIHMGNAIMTFYSALIDLLGRCAPE>M<HLIHAGKGEAIRIRSILRSLIPLGDLVGVI	2436
RYR3	EEEEEIVHMGNAIMSFYSALIDLLGRCAPE>M<HLIQTGKGEAIRIRSILRSLVPTEDLVGII	2333
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2440I	c.7320G>T	Putative Benign		rs137938867	SIFT: Polyphen: benign