Paralogue Annotation for RYR1 residue 2462

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2462
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2462

No paralogue variants have been mapped to residue 2462 for RYR1.

RYR1	LLGRCAPEMHLIQAGKGEALRIRAILRSLV>P<LEDLVGIISLPLQIPTLGKDGALVQPKMSA	2492
RYR2	LLGRCAPEMHLIHAGKGEAIRIRSILRSLI>P<LGDLVGVISIAFQMPTIAKDGNVVEPDMSA	2458
RYR3	LLGRCAPEMHLIQTGKGEAIRIRSILRSLV>P<TEDLVGIISIPLKLPSLNKDGSVSEPDMAA	2355
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2462L	c.7385C>T	Putative Benign			SIFT: deleterious Polyphen: benign