Paralogue Annotation for RYR2 residue 758

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 758
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 758

No paralogue variants have been mapped to residue 758 for RYR2.

RYR2	DGLHLWSGCIARTVSSPNQHLLRTDDVISC>C<LDLSAPSISFRINGQPVQGMFENFNIDGLF	788
RYR1	DGLHLWTGHVARPVTSPGQHLLAPEDVISC>C<LDLSVPSISFRINGCPVQGVFESFNLDGLF	776
RYR3	DGLHLWSGRIPRAVASINQHLLRSDDVVSC>C<LDLGVPSISFRINGQPVQGMFENFNTDGLF	775
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C758S	c.2273G>C	Putative Benign			SIFT: tolerated Polyphen: possibly damaging