Paralogue Annotation for RYR2 residue 1024

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1024
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1024

No paralogue variants have been mapped to residue 1024 for RYR2.



RYR2AMVDKLAENAHNVWARDRIRQGWTYGIQQD>V<KNRRNPRLVPYTLLDDRTKKSNKDSLREAV1054
RYR1TLVDRLAENGHNVWARDRVGQGWSYSAVQD>I<PARRNPRLVPYRLLDEATKRSNRDSLCQAV1042
RYR3ILVDKLAENAHNVWAKDRIKQGWTYGIQQD>L<KNKRNPRLVPYALLDERTKKSNRDSLREAV1041
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1024Ac.3071T>C Putative BenignSIFT:
Polyphen:
p.V1024Ic.3070G>A UnknownSIFT:
Polyphen: benign