Paralogue Annotation for RYR2 residue 3366

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3366
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3366

No paralogue variants have been mapped to residue 3366 for RYR2.

RYR2	EEDHLKAEARGDMSEAELLILDEFTTLARD>L<YAFYPLLIRFVDYNRAKWLKEPNPEAEELF	3396
RYR1	EEEQLRLEAKAEAQEGELLVRDEFSVLCRD>L<YALYPLLIRYVDNNRAQWLTEPNPSAEELF	3435
RYR3	EEEQLKADGKGDTQEAELLILDEFAVLCRD>L<YAFYPMLIRYVDNNRSNWLKSPDADSDQLF	3292
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3366F	c.10096C>T	Putative Benign		rs377712921	SIFT: deleterious Polyphen: probably damaging