Paralogue Annotation for RYR2 residue 2428

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2428
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2428

No paralogue variants have been mapped to residue 2428 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2428S	c.7282C>T	Putative Benign			SIFT: Polyphen:
p.P2428A	c.7282C>G	Putative Benign			SIFT: Polyphen: