Paralogue Annotation for RYR2 residue 4047

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4047
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4047

No paralogue variants have been mapped to residue 4047 for RYR2.



RYR2FDMFLKLKDLTSSDTFKEYDPDGKGVISKR>D<FHKAMESHKHYTQSETEFLLSCAETDENET4077
RYR1FDMFLKLKDIVGSEAFQDYVTDPRGLISKK>D<FQKAMDSQKQFSGPEIQFLLSCSEADENEM4121
RYR3FDMFLKLKDLTSSDTFKEYDPDGKGIISKK>E<FQKAMEGQKQYTQSEIDFLLSCAEADENDM3973
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Asp4047Hisc.12139G>C UnknownSIFT:
Polyphen: