Paralogue Annotation for RYR2 residue 259

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 259
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 259

No paralogue variants have been mapped to residue 259 for RYR2.

RYR2	IGGDVLRLLHGHMDECLTVPSGEHGEEQRR>T<VHYEGGAVSVHARSLWRLETLRVAWSGSHI	289
RYR1	TGGHVLRLFHGHMDECLTISPAD-SDDQRR>L<VYYEGGAVCTHARSLWRLEPLRISWSGSHL	273
RYR3	LGGHVVRLFHGH-DECLTIPSTDQNDSQHR>R<IFYEAGGAGTRARSLWRVEPLRISWSGSNI	278
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T259A	c.775A>G	Putative Benign			SIFT: Polyphen:
p.T259N	c.776C>A	Putative Benign			SIFT: Polyphen: