Paralogue Annotation for RYR2 residue 754

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 754
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 754

No paralogue variants have been mapped to residue 754 for RYR2.

RYR2	SYGFDGLHLWSGCIARTVSSPNQHLLRTDD>V<ISCCLDLSAPSISFRINGQPVQGMFENFNI	784
RYR1	SYGFDGLHLWTGHVARPVTSPGQHLLAPED>V<ISCCLDLSVPSISFRINGCPVQGVFESFNL	772
RYR3	SYGFDGLHLWSGRIPRAVASINQHLLRSDD>V<VSCCLDLGVPSISFRINGQPVQGMFENFNT	771
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V754F	c.2260G>T	Putative Benign		rs376923538	SIFT: deleterious Polyphen: probably damaging