Paralogue Annotation for RYR1 residue 3593

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3593
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3593

No paralogue variants have been mapped to residue 3593 for RYR1.



RYR1VEGSPSLRWQMALYRGVPGREEDADDPEKI>V<RRV-------------QEVSAVLYYLDQTE3610
RYR2LE-DPAIRWQMALYKDLPNRTDDTSDPEKT>V<ERVLDIANVLFHLEQKSKRVGRRHYCL-VE3577
RYR3SD-DPAVKWQLNLYKDVLK-SEEPFNPEKT>V<ERV-------------QRISAAVFHLEQVE3465
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V3593Ec.10778T>A Putative BenignSIFT:
Polyphen: