Paralogue Annotation for RYR1 residue 2468

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2468
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2468

No paralogue variants have been mapped to residue 2468 for RYR1.

RYR1	PEMHLIQAGKGEALRIRAILRSLVPLEDLV>G<IISLPLQIPTLGKDGALVQPKMSASFVPDH	2498
RYR2	PEMHLIHAGKGEAIRIRSILRSLIPLGDLV>G<VISIAFQMPTIAKDGNVVEPDMSAGFCPDH	2464
RYR3	PEMHLIQTGKGEAIRIRSILRSLVPTEDLV>G<IISIPLKLPSLNKDGSVSEPDMAANFCPDH	2361
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2468D	c.7403G>A	Putative Benign		rs146252940	SIFT: Polyphen: possibly damaging