Paralogue Annotation for RYR2 residue 3349

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3349
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3349

No paralogue variants have been mapped to residue 3349 for RYR2.

RYR2	FLPLMEKLKKKAATVVSEEDHLKAEARGDM>S<EAELLILDEFTTLARDLYAFYPLLIRFVDY	3379
RYR1	FIPTIGRLRKRAGKVVSEEEQLRLEAKAEA>Q<EGELLVRDEFSVLCRDLYALYPLLIRYVDN	3418
RYR3	FIPTLEKLKKKAVKTVQEEEQLKADGKGDT>Q<EAELLILDEFAVLCRDLYAFYPMLIRYVDN	3275
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3349T	c.10045T>A	Putative Benign			SIFT: Polyphen:
p.Ser3349Leu	c.10046C>T	Unknown			SIFT: Polyphen: