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.



RYR2SDFHQYDTGFDLDRVRTVTVTLGDEKGKVH>E<SIKRSNCYMVCAGESMSPGQ-G-RNNNGLE1506
RYR1PDYHQHDMSFDLSKVRVVTVTMGDEQGNVH>S<SLKCSNCYMVWGGDFVSPGQQGRISHTDLV1514
RYR3PDYHLYSEKFDLNKNCTVTVTLGDERGRVH>E<SVKRSNCYMVWGGDIVASSQRSNRSNVDLE1410
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1478Dc.4434A>C Putative BenignSIFT:
Polyphen: