Paralogue Annotation for RYR2 residue 1733

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1733
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1733

No paralogue variants have been mapped to residue 1733 for RYR2.

RYR2	YDLLIDIHLSSYATARLMMNNEYIVPMTEE>T<KSITLFPD------ENKKHGLPGIGLSTSL	1757
RYR1	YDLLISIHLESACRSRRSMLSEYIVPLTPE>T<RAITLFPPGRSTENGHPRHGLPGVGVTTSL	1771
RYR3	YDLLISIHLASAKERKLMMKNEYIIPITST>T<RNIRLFPD------ESKRHGLPGVGLRTCL	1661
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1733M	c.5198C>T	Putative Benign			SIFT: Polyphen: