Paralogue Annotation for RYR2 residue 3281

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3281
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3281

No paralogue variants have been mapped to residue 3281 for RYR2.



RYR2ENNPE----RAEMCCTALNSEHMNTLLGNI>L<KIIYNNLGIDEGAWMKRLAVFSQPIINKVK3311
RYR1EAPPSALPAGAPPPCTAVTSDHLNSLLGNI>L<RIIVNNLGIDEASWMKRLAVFAQPIVSRAR3350
RYR3ENLPP----STGPCCTKVTSEHLSLILGNI>L<KIINNNLGIDEASWMKRIAVYAQPIISKAR3207
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu3281Valc.9841T>G UnknownSIFT:
Polyphen: