Paralogue Annotation for RYR2 residue 1730

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1730
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1730

No paralogue variants have been mapped to residue 1730 for RYR2.

RYR2	AGYYDLLIDIHLSSYATARLMMNNEYIVPM>T<EETKSITLFPD------ENKKHGLPGIGLS	1754
RYR1	AGYYDLLISIHLESACRSRRSMLSEYIVPL>T<PETRAITLFPPGRSTENGHPRHGLPGVGVT	1768
RYR3	SGFYDLLISIHLASAKERKLMMKNEYIIPI>T<STTRNIRLFPD------ESKRHGLPGVGLR	1658
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1730M	c.5189C>T	Putative Benign			SIFT: Polyphen: