Paralogue Annotation for RYR2 residue 785

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 785
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 785

No paralogue variants have been mapped to residue 785 for RYR2.

RYR2	ISCCLDLSAPSISFRINGQPVQGMFENFNI>D<GLFFPVVSFSAGIKVRFLLGGRHGEFKFLP	815
RYR1	ISCCLDLSVPSISFRINGCPVQGVFESFNL>D<GLFFPVVSFSAGVKVRFLLGGRHGEFKFLP	803
RYR3	VSCCLDLGVPSISFRINGQPVQGMFENFNT>D<GLFFPVMSFSAGVKVRFLMGGRHGEFKFLP	802
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D785N	c.2353G>A	Putative Benign			SIFT: Polyphen: