Paralogue Annotation for RYR2 residue 1478

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1478
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1478

No paralogue variants have been mapped to residue 1478 for RYR2.

RYR2	SDFHQYDTGFDLDRVRTVTVTLGDEKGKVH>E<SIKRSNCYMVCAGESMSPGQ-G-RNNNGLE	1506
RYR1	PDYHQHDMSFDLSKVRVVTVTMGDEQGNVH>S<SLKCSNCYMVWGGDFVSPGQQGRISHTDLV	1514
RYR3	PDYHLYSEKFDLNKNCTVTVTLGDERGRVH>E<SVKRSNCYMVWGGDIVASSQRSNRSNVDLE	1410
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1478D	c.4434A>C	Putative Benign			SIFT: Polyphen: