Paralogue Annotation for RYR1 residue 2446

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2446
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2446

No paralogue variants have been mapped to residue 2446 for RYR1.

RYR1	VHLGHAIMSFYAALIDLLGRCAPEMHLIQA>G<KGEALRIRAILRSLVPLEDLVGIISLPLQI	2476
RYR2	IHMGNAIMTFYSALIDLLGRCAPEMHLIHA>G<KGEAIRIRSILRSLIPLGDLVGVISIAFQM	2442
RYR3	VHMGNAIMSFYSALIDLLGRCAPEMHLIQT>G<KGEAIRIRSILRSLVPTEDLVGIISIPLKL	2339
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2446S	c.7336G>A	Putative Benign		rs375148516	SIFT: deleterious Polyphen: benign