Paralogue Annotation for RYR2 residue 3260

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3260
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3260

No paralogue variants have been mapped to residue 3260 for RYR2.

RYR2	VMEVILPMLCSYMSRWWEHGPENNPE---->R<AEMCCTALNSEHMNTLLGNILKIIYNNLGI	3290
RYR1	VIEITLPMLCSYLPRWWERGPEAPPSALPA>G<APPPCTAVTSDHLNSLLGNILRIIVNNLGI	3329
RYR3	VIEVILPMLCNYLSYWWERGPENLPP---->S<TGPCCTKVTSEHLSLILGNILKIINNNLGI	3186
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3260W	c.9778C>T	Putative Benign			SIFT: Polyphen:
p.R3260Q	c.9779G>A	Putative Benign			SIFT: Polyphen: