Paralogue Annotation for RYR2 residue 4182

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4182
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4182

No paralogue variants have been mapped to residue 4182 for RYR2.



RYR2ISESSRTQWEKPQVKESKRQFIFDVVNEGG>E<KEKMELFVNFCEDTIFEMQLAAQISESDLN4212
RYR1ISETNRAQWEMPQVKESKRQFIFDVVNEGG>E<AEKMELFVSFCEDTIFEMQIAAQISEPEGE4256
RYR3ISESSRTQWEKPQVKESKRQFIFDVVNEGG>E<QEKMELFVNFCEDTIFEMQLASQISESDSA4108
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Glu4182Glnc.12544G>C UnknownSIFT:
Polyphen:
p.Glu4182Alac.12545A>C UnknownSIFT:
Polyphen: