Paralogue Annotation for RYR2 residue 1044

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1044
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1044

No paralogue variants have been mapped to residue 1044 for RYR2.



RYR2QGWTYGIQQDVKNRRNPRLVPYTLLDDRTK>K<SNKDSLREAVRTLLGYGYNLEAPDQDHAAR1074
RYR1QGWSYSAVQDIPARRNPRLVPYRLLDEATK>R<SNRDSLCQAVRTLLGYGYNIEPPDQEP-SQ1061
RYR3QGWTYGIQQDLKNKRNPRLVPYALLDERTK>K<SNRDSLREAVRTFVGYGYNIEPSDQEL-AD1060
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1044Tc.3131A>C UnknownSIFT:
Polyphen: probably damaging