Paralogue Annotation for RYR2 residue 1318

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1318
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1318

No paralogue variants have been mapped to residue 1318 for RYR2.



RYR2KSFGSQNSNTDIMFYRLSMPIECAEVFSKT>V<-AGGLPGAGLFGPK-NDLEDYDADSDFEVL1346
RYR1RTWGSQNSLVEMLFLRLSLPVQFHQHFRCT>A<GATPLAPPGLQPPAEDEARAAEPDPDYENL1334
RYR3KTFGTQNSNADMIYCRLSMPVECHSSFSH->-<------------------------------1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1318Ec.3953T>A Putative BenignSIFT: tolerated
Polyphen: benign