Paralogue Annotation for RYR2 residue 1268

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1268
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1268

No paralogue variants have been mapped to residue 1268 for RYR2.

RYR2	PFAVNTNRDITMWLSKRLPQFLQVPSNHEH>I<EVTRIDGTIDSSPCLKVTQKSFGSQNSNTD	1298
RYR1	PFAINMQRPVTTWFSKGLPQFEPVPLEHPH>Y<EVSRVDGTVDTPPCLRLTHRTWGSQNSLVE	1284
RYR3	PFAVNMNRDVAMWFSKRLPTFVNVPKDHPH>I<EVMRIDGTMDSPPCLKVTHKTFGTQNSNAD	1284
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1268T	c.3803T>C	Inherited Arrhythmia			SIFT: deleterious Polyphen: benign
Reports		Inherited Arrhythmia	BrS	Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PLoS One. 2015 10(7):e0133037. doi: 10.1371/journal.pone.0133037. 26230511
p.I1268V	c.3802A>G	Putative Benign			SIFT: Polyphen: