Paralogue Annotation for RYR2 residue 3547

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3547
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3547

No paralogue variants have been mapped to residue 3547 for RYR2.



RYR2KLE-DPAIRWQMALYKDLPNRTDDTSDPEK>T<VERVLDIANVLFHLEQKSKRVGRRHYCL-V3576
RYR1KVEGSPSLRWQMALYRGVPGREEDADDPEK>I<VRRV-------------QEVSAVLYYLDQT3609
RYR3KSD-DPAVKWQLNLYKDVLK-SEEPFNPEK>T<VERV-------------QRISAAVFHLEQV3464
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T3547Mc.10640C>T Putative BenignSIFT: tolerated
Polyphen: benign
p.T3547Rc.10640C>G Putative BenignSIFT:
Polyphen: