Paralogue Annotation for RYR1 residue 2469

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2469
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2469

No paralogue variants have been mapped to residue 2469 for RYR1.

RYR1	EMHLIQAGKGEALRIRAILRSLVPLEDLVG>I<ISLPLQIPTLGKDGALVQPKMSASFVPDHK	2499
RYR2	EMHLIHAGKGEAIRIRSILRSLIPLGDLVG>V<ISIAFQMPTIAKDGNVVEPDMSAGFCPDHK	2465
RYR3	EMHLIQTGKGEAIRIRSILRSLVPTEDLVG>I<ISIPLKLPSLNKDGSVSEPDMAANFCPDHK	2362
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2469T	c.7406T>C	Putative Benign			SIFT: Polyphen: