Paralogue Annotation for RYR2 residue 1845

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1845
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1845

No paralogue variants have been mapped to residue 1845 for RYR2.

RYR2	EFLFVPLIKLFYTLLIMGIFHNEDLKHILQ>L<IEPSVFKEAATPEEESDTL--E-K---ELS	1869
RYR1	EFQFVPVLKLVSTLLVMGIFGDEDVKQILK>M<IEPEVFTEEEEEEDEEEEGEEEDEEEKEED	1895
RYR3	EFQFVPVLKLIGTLLVMGVFDDDDVRQILL>L<IDPSVFGEHSAGTEEGAEK--E-E---VTQ	1773
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1845F	c.5535G>T	Putative Benign			SIFT: Polyphen: