Paralogue Annotation for RYR2 residue 2426

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2426
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2426

No paralogue variants have been mapped to residue 2426 for RYR2.

RYR2	IDLLGRCAPEMHLIHAGKGEAIRIRSILRS>L<IPLGDLVGVISIAFQMPTIAKDGNVVEPDM	2456
RYR1	IDLLGRCAPEMHLIQAGKGEALRIRAILRS>L<VPLEDLVGIISLPLQIPTLGKDGALVQPKM	2490
RYR3	IDLLGRCAPEMHLIQTGKGEAIRIRSILRS>L<VPTEDLVGIISIPLKLPSLNKDGSVSEPDM	2353
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2426P	c.7277T>C	Putative Benign		rs28677142	SIFT: deleterious Polyphen: probably damaging