Paralogue Annotation for RYR2 residue 3669

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3669
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3669

No paralogue variants have been mapped to residue 3669 for RYR2.

RYR2	LIEDLAKPG-AEPPEEDEGTKRVDPLHQLI>L<LFSRTALTEKCKLEEDFLYMAYADIMAKSC	3699
RYR1	MIDDLSKAGEQEEEEEEVEEKKPDPLHQLV>L<HFSRTALTEKSKLDEDYLYMAYADIMAKSC	3733
RYR3	LVQDLAKSPKVEEEEEEETEKQPDPLHQII>L<YFSRNALTERSKLEDDPLYTSYSSMMAKSC	3588
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3669F	c.11005C>T	Putative Benign		rs374720955	SIFT: tolerated Polyphen: probably damaging