Paralogue Annotation for RYR2 residue 2435

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2435
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2435

No paralogue variants have been mapped to residue 2435 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2435F	c.7303G>T	Putative Benign		rs188835713	SIFT: deleterious Polyphen: probably damaging