Paralogue Annotation for RYR2 residue 2438

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2438
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2438

No paralogue variants have been mapped to residue 2438 for RYR2.

RYR2	LIHAGKGEAIRIRSILRSLIPLGDLVGVIS>I<AFQMPTIAKDGNVVEPDMSAGFCPDHKAAM	2468
RYR1	LIQAGKGEALRIRAILRSLVPLEDLVGIIS>L<PLQIPTLGKDGALVQPKMSASFVPDHKASM	2502
RYR3	LIQTGKGEAIRIRSILRSLVPTEDLVGIIS>I<PLKLPSLNKDGSVSEPDMAANFCPDHKAPM	2365
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2438L	c.7312A>C	Putative Benign			SIFT: Polyphen: