Paralogue Annotation for RYR2 residue 3294

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3294
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3294

No paralogue variants have been mapped to residue 3294 for RYR2.

RYR2	CCTALNSEHMNTLLGNILKIIYNNLGIDEG>A<WMKRLAVFSQPIINKVKPQLLKTHFLPLME	3324
RYR1	PCTAVTSDHLNSLLGNILRIIVNNLGIDEA>S<WMKRLAVFAQPIVSRARPELLQSHFIPTIG	3363
RYR3	CCTKVTSEHLSLILGNILKIINNNLGIDEA>S<WMKRIAVYAQPIISKARPDLLRSHFIPTLE	3220
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3294T	c.9880G>A	Putative Benign			SIFT: Polyphen: