Paralogue Annotation for RYR2 residue 1867

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1867
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1867

No paralogue variants have been mapped to residue 1867 for RYR2.

RYR2	LQLIEPSVFKEAATPEEESDTL--E-K--->E<LS----VDDAK-LQGAGEE--EAKGGKRPK	1890
RYR1	LKMIEPEVFTEEEEEEDEEEEGEEEDEEEK>E<EDEEETAQEKEDEEKEEEEAAEGEKEEGLE	1923
RYR3	LLLIDPSVFGEHSAGTEEGAEK--E-E--->V<TQ----VEEKA-VEAG-----EKAGKEAPV	1791
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1867V	c.5600A>T	Putative Benign			SIFT: tolerated Polyphen: benign
p.E1867A	c.5600A>C	Putative Benign			SIFT: Polyphen: