Paralogue Annotation for RYR2 residue 4070

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4070
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4070

No paralogue variants have been mapped to residue 4070 for RYR2.



RYR2KGVISKRDFHKAMESHKHYTQSETEFLLSC>A<ETDENETLDYEEFVKRFHEPAKDIGFNVAV4100
RYR1RGLISKKDFQKAMDSQKQFSGPEIQFLLSC>S<EADENEMINCEEFANRFQEPARDIGFNVAV4144
RYR3KGIISKKEFQKAMEGQKQYTQSEIDFLLSC>A<EADENDMFNYVDFVDRFHEPAKDIGFNVAV3996
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4070Vc.12209C>T Putative BenignSIFT:
Polyphen:
p.A4070Ec.12209C>A Putative BenignSIFT:
Polyphen: