Paralogue Annotation for RYR2 residue 1868

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1868
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1868

No paralogue variants have been mapped to residue 1868 for RYR2.

RYR2	QLIEPSVFKEAATPEEESDTL--E-K---E>L<S----VDDAK-LQGAGEE--EAKGGKRPKE	1891
RYR1	KMIEPEVFTEEEEEEDEEEEGEEEDEEEKE>E<DEEETAQEKEDEEKEEEEAAEGEKEEGLEE	1924
RYR3	LLIDPSVFGEHSAGTEEGAEK--E-E---V>T<Q----VEEKA-VEAG-----EKAGKEAPVK	1792
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1868I	c.5602C>A	Putative Benign			SIFT: Polyphen: