Paralogue Annotation for RYR2 residue 2452

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2452
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2452

No paralogue variants have been mapped to residue 2452 for RYR2.

RYR2	ILRSLIPLGDLVGVISIAFQMPTIAKDGNV>V<EPDMSAGFCPDHKAAMVLFLDRVYGIEVQD	2482
RYR1	ILRSLVPLEDLVGIISLPLQIPTLGKDGAL>V<QPKMSASFVPDHKASMVLFLDRVYGIENQD	2516
RYR3	ILRSLVPTEDLVGIISIPLKLPSLNKDGSV>S<EPDMAANFCPDHKAPMVLFLDRVYGIKDQT	2379
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2452M	c.7354G>A	Putative Benign		rs377136047	SIFT: tolerated Polyphen: benign