Paralogue Annotation for RYR2 residue 1296

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1296
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1296

No paralogue variants have been mapped to residue 1296 for RYR2.

RYR2	EHIEVTRIDGTIDSSPCLKVTQKSFGSQNS>N<TDIMFYRLSMPIECAEVFSKTV-AGGLPGA	1325
RYR1	PHYEVSRVDGTVDTPPCLRLTHRTWGSQNS>L<VEMLFLRLSLPVQFHQHFRCTAGATPLAPP	1312
RYR3	PHIEVMRIDGTMDSPPCLKVTHKTFGTQNS>N<ADMIYCRLSMPVECHSSFSH----------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1296D	c.3886A>G	Putative Benign		rs371442957	SIFT: tolerated Polyphen: benign
p.N1296K	c.3888C>A	Putative Benign			SIFT: Polyphen: