Paralogue Annotation for RYR2 residue 4390

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4390
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4390

No paralogue variants have been mapped to residue 4390 for RYR2.



RYR2DLKELTEESDLLSD-----IFGLDLKREGG>Q<YKLIPHNPNAGLSDLMSN-PVPMPE-V-QE4417
RYR1AAEGAGDEEEAVHEAGPGGADGAVAVTDGG>P<FRPEGAGGLGDMGDTTPAEPPTPEGSP-IL4474
RYR3FIKGEKGDTDIMSD-----LFGLHPKKEGS>-<LKHGPEVGLGDLSEIIGKDEPPTLESTVQK4321
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q4390Rc.13169A>G Putative BenignSIFT:
Polyphen: